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Gene: Ift140 MGI:2146906

Gene Summary

Name:

intraflagellar transport 140

Synonyms:

Tce5, Wdtc2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

No results meet the p-value threshold

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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.

X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

7 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Ift140^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Ift140^{tm1a(KOMP)Wtsi}
HET, Female, WTSI

View all 71 images

Human diseases caused by Ift140 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.

Human diseases associated with Ift140 (6 diseases)
Human diseases predicted to be associated with Ift140 (1706 diseases)

The table below shows human diseases associated to Ift140 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Widely spaced teeth, High palate...	OMIM:266920
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal testis morphology, Atyp...	ORPHA:791
Retinitis Pigmentosa 80	Cone-shaped epiphyses of the phalanges of the hand	OMIM:617781

The table below shows human diseases predicted to be associated to Ift140 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Up...	ORPHA:294975
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a...	OMIM:231060
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma...	OMIM:615415
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Renal agenesis, Renal hypo...	ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte...	ORPHA:401935
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis...	OMIM:601355
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal...	OMIM:616589
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept...	ORPHA:93267
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard...	OMIM:619657
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor...	ORPHA:2345
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:136760
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia	OMIM:612776
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ...	OMIM:109400
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Omphalocele, Hypoplasia of the premaxilla, Inte...	ORPHA:2166
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Femoral hernia, Micromelia, Micrognathia, Short...	ORPHA:93298
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Beaded ribs, Micrognathia, Cardiomegaly, Short neck, Flexion contract...	OMIM:616897
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Achondrogenesis Type 1A	Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Femoral hernia, Recurre...	ORPHA:93299
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate	OMIM:611867
Isolated Osteopoikilosis	Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ...	ORPHA:166119
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Short pa...	ORPHA:915
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa...	OMIM:215140
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,...	OMIM:213980
Kagami-Ogata Syndrome	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec...	OMIM:608149
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,...	ORPHA:1327
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr...	OMIM:108720
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, N...	ORPHA:1865
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin...	ORPHA:244
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Achondrogenesis	Thickened nuchal skin fold, Inguinal hernia, Severe short stature, Micromelia, Micrognathia, Shor...	ORPHA:932
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Hypoplasia of the maxilla, Sensorineural hearing impairment, Delayed s...	OMIM:608154
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ...	ORPHA:2484
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Intestinal malrotation, Polyhy...	ORPHA:3376
Trisomy 13	Anophthalmia, High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Hernia,...	ORPHA:3378
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydramnios, Metaphyseal widening, ...	OMIM:263210
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Cervical cord compression, A...	ORPHA:79345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun...	ORPHA:1120
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrop...	OMIM:600972
Trisomy 1Q	Anophthalmia, Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Microretrognathia...	ORPHA:261344
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Mosaic Trisomy 9	Micromelia, Micrognathia, Short neck, Polyhydramnios, Abnormal lung lobation, Hemivertebrae, Hydr...	ORPHA:99776
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se...	ORPHA:90652
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A...	ORPHA:93323
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le...	OMIM:236110
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac...	ORPHA:2008
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narr...	OMIM:269860
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Cardiomegaly, Short neck, Fetal akinesia sequence, ...	OMIM:617022
Lujan-Fryns Syndrome	Macroorchidism, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Hypoplas...	ORPHA:776
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit...	ORPHA:2437
Chondrodysplasia, Blomstrand Type	Premature birth, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteoscle...	OMIM:215045
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Verheij Syndrome	Thin upper lip vermilion, Ventricular septal defect, Truncus arteriosus, Renal agenesis, Hip disl...	OMIM:615583
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:615524
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin...	OMIM:601186
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic ...	OMIM:619123
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Atrial septal defect, Short stature, Hypopl...	ORPHA:261295
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Abnormal aorti...	ORPHA:1166
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Micrognathia, Pectus excavatum, Malar prominence, Sp...	ORPHA:2522
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Aqueductal stenosis, Short neck, Narrow chest, Neonatal death, Short ti...	OMIM:251230
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm...	ORPHA:2710
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Mosaic Trisomy 20	Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear...	ORPHA:1724
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener...	ORPHA:508498
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate...	ORPHA:1354
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Conductive he...	OMIM:252100
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, F...	OMIM:274000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Inguinal hernia, Spina bifida, Dermatoglyphic ridges abnormal, Mitral ...	OMIM:211960
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Fin...	ORPHA:193
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia ...	ORPHA:96334
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture, Cardiomyop...	OMIM:616549
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus ...	OMIM:304050
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Atrial septal defe...	ORPHA:2538
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Mitral...	ORPHA:90653
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Cleft pal...	OMIM:613885
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic...	OMIM:201170
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab...	OMIM:144750
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia,...	ORPHA:2092
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee...	OMIM:617616
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Prea...	ORPHA:79113
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Thoracolumbar kyphosis, Accelerated skeletal maturation, Flexion cont...	OMIM:253220
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Anophthalmia, Camptodactyly of f...	ORPHA:1101
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Partial duplication of the proxi...	ORPHA:363417
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath...	ORPHA:3033
Mulibrey Nanism	Short stature, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Congestive ...	OMIM:253250
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr...	ORPHA:763
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen...	OMIM:214300
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ...	ORPHA:1705
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Short stature, Single transverse palmar crease, Lumbar hype...	OMIM:216550
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Mit...	OMIM:601216
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism...	ORPHA:85279
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Tricuspid regurgitation, Sandal gap, High, na...	OMIM:612863
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, E...	OMIM:200610
Distal Duplication 15Q	Omphalocele, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchid...	ORPHA:1707
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ea...	ORPHA:192
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death,...	OMIM:146510
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn...	ORPHA:1692
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abn...	ORPHA:73230
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti...	ORPHA:3316
Meacham Syndrome	Accessory spleen, Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect...	OMIM:608978
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis...	OMIM:615993
Infantile Sialic Acid Storage Disease	Osteopenia, Premature birth, Cardiomegaly, Congestive heart failure, Abnormal thorax morphology, ...	OMIM:269920
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypop...	ORPHA:2409
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed a...	OMIM:615546
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Premature birth, Delayed skeletal maturation, Abnormality of th...	ORPHA:3268
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Holoprosencephaly 9	Anophthalmia, Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Hypoplasia of ...	OMIM:610829
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,...	ORPHA:370010
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Polyhydramnios, Dela...	OMIM:114290
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cond...	OMIM:300373
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Inguinal herni...	ORPHA:2412
Trisomy 18	Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ...	ORPHA:3380
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m...	ORPHA:3035
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ...	ORPHA:439822
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me...	OMIM:608328
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia...	ORPHA:887
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Pectus c...	OMIM:300676
Sialidosis Type 2	Inguinal hernia, Short stature, Kyphosis, Short thorax, Flexion contracture, Osteoporosis, Hydrop...	ORPHA:87876
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft...	OMIM:614815
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Lon...	OMIM:618316
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Short stature, Premature birth, Congenital diaphragmatic he...	ORPHA:1834
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Hiatus hernia,...	ORPHA:50
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Narrow mouth, Vel...	OMIM:617746
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
C Syndrome	Micromelia, Micrognathia, High palate, Dislocated radial head, Short metacarpal, Short stature, C...	OMIM:211750
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Conical inciso...	OMIM:235510
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Antegonial notching of ma...	OMIM:170390
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra...	OMIM:615982
Shashi-Pena Syndrome	Short metacarpal, Posteriorly rotated ears, Cervical C2/C3 vertebral fusion, Accelerated skeletal...	OMIM:617190
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Bilatera...	OMIM:602535
Meckel Syndrome, Type 1	Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plat...	OMIM:249000
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Short stat...	ORPHA:1307
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyopathy, Small...	OMIM:300845
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Ventricular septal d...	ORPHA:96129
3C Syndrome	Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Abnormal tricuspid valve morphology...	ORPHA:7
Turnpenny-Fry Syndrome	Mandibular prognathia, Polyhydramnios, Pectus carinatum, Prominent interphalangeal joints, Long t...	OMIM:618371
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Pectus excavatum, Esophageal atresia, Muscular ventricular septal defect, Submucou...	OMIM:619227
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Short stature, Pa...	OMIM:277600
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn...	ORPHA:628
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed a...	OMIM:601390
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Micrognathia, Aqueductal stenosis, Hemivertebrae, Abnormal form of ...	ORPHA:3412
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the verteb...	ORPHA:93262
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydro...	ORPHA:1926
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Thoracolumbar scoliosis, Mitral valve prolapse, Knee flexion contrac...	OMIM:606631
Platyspondylic Dysplasia, Torrance Type	Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm...	ORPHA:85166
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea...	ORPHA:2091
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Micrognathia, Flexion contracture, Cardiomyopathy, Abnormality of the ...	OMIM:608540
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist flexion contracture, ...	ORPHA:254528
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se...	OMIM:607323
Cerebrocostomandibular Syndrome	Hydranencephaly, Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Tracheomal...	ORPHA:1393
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, 2-3 toe cu...	OMIM:609625
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Decreased fetal movement, Glue ear, Secundum atrial septal defe...	OMIM:619758
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Lateral Meningocele Syndrome	Bicuspid aortic valve, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vert...	OMIM:130720
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Acalvaria	Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cle...	ORPHA:945
Feingold Syndrome 1	Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Esophageal atresia, Patent ductu...	OMIM:164280
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d...	OMIM:617516
Emanuel Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Congenital hip dislocation,...	OMIM:609029
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate...	OMIM:246560
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Diffuse alveolar hemorrhage, Asplenia, Cervical lymp...	OMIM:614034
Chromosome 9P Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, High palate, Atrial septal defect, Long toe, Taper...	OMIM:158170
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta...	ORPHA:3219
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Abnormal lung lobation, High palate, Conductive hearing impairment, Thicke...	OMIM:607872
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Gm1 Gangliosidosis	Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumon...	ORPHA:354
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Pericallosal lipoma, Lumbar hyperlordosis, Camp...	ORPHA:391474
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r...	ORPHA:1908
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl...	OMIM:101800
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydr...	OMIM:610828
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va...	OMIM:619142
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe...	OMIM:600920
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Omphalocele, Posteriorly rotated ears, Ventricular septal defect...	OMIM:264480
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Acrodysostosis	Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh...	ORPHA:950
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac...	ORPHA:261330
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept...	OMIM:139210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial po...	OMIM:617895
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Short stature, Hearing impairment, Hypoplasia of the maxilla, Cleft pa...	OMIM:614261
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He...	OMIM:185070
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Premature birth, Micromelia, Micrognathia, Polyh...	ORPHA:2189
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Anterior encephaloce...	OMIM:601357
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con...	OMIM:218000
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Abnormal dental ena...	ORPHA:1798
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Predominantly lower limb lymphedema, Metatarsus adductus, Hypoplasia of...	ORPHA:293939
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ...	ORPHA:2635
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypoplastic spleen, Ankyloglossia, Br...	OMIM:602361
Lateral Meningocele Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bodies, High palate...	ORPHA:2789
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Hepatic fibrosis, Micro...	OMIM:614091
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Tetrasomy 15Q26	Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,...	OMIM:614846
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, High, n...	OMIM:180849
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial sept...	OMIM:214800
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Short stature, Polyhydramnios, Short neck, Rib fusion, Hemiver...	ORPHA:1394
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li...	ORPHA:521308
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h...	ORPHA:1529
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the...	OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac...	ORPHA:481152
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Renal agenesis, Anomalous origin of left coronary artery from the pulmona...	ORPHA:2326
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity...	OMIM:600373
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Joint...	OMIM:130000
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, High palate, Prominent U wa...	ORPHA:37553
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo...	ORPHA:371428
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid...	ORPHA:96170
Marfan Syndrome	Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Micrognathia, Incisional hernia, Flexi...	OMIM:154700
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Absent th...	OMIM:609053
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio...	OMIM:249670
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoraci...	ORPHA:530983
Keipert Syndrome	Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ...	ORPHA:2662
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac...	OMIM:156530
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft...	OMIM:192430
Neu-Laxova Syndrome 2	Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi...	OMIM:616038
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Short stature, Tapered finger, Cryptorchidism, Patent d...	OMIM:617159
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi...	ORPHA:957
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Re...	OMIM:247200
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Limb Body Wall Complex	Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Atrial ...	ORPHA:2369
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive...	ORPHA:794
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck...	ORPHA:2021
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall...	ORPHA:949
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Protruding ear, High palate, Atrial septal defect, E...	OMIM:601776
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short neck, Flexion contractur...	OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Short stature, Micrognath...	OMIM:300534
Neonatal Marfan Syndrome	Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Emphys...	ORPHA:284979
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad...	ORPHA:2476
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Polyhydramnios, Abnormal limb bone morphology, Hyd...	ORPHA:2204
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Posteriorly rotated ears, Micrognathia, Bi...	OMIM:618529
3Mc Syndrome 1	Conjunctival telangiectasia, Atrial septal defect, Conductive hearing impairment, Clinodactyly of...	OMIM:257920
Fryns Syndrome	Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ...	ORPHA:2059
7Q31 Microdeletion Syndrome	Atrial septal defect, Recurrent respiratory infections, Hypoplasia of the maxilla, Postnatal grow...	ORPHA:251061
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Abnormal thorax morphology, Orbital enc...	OMIM:164180
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Macroorchidism, Arachnodactyly, Ventricula...	OMIM:309520
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo...	ORPHA:50945
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Metaphyseal widening, High palate, Spina bifida, Hyperlordosis...	OMIM:234100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Edema, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Vasculit...	ORPHA:324964
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p...	ORPHA:1488
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min...	ORPHA:261318
Congenital Heart Block	First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after...	ORPHA:60041
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr...	ORPHA:1445
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol...	ORPHA:178303
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio...	ORPHA:175
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita...	ORPHA:1335
You-Hoover-Fong Syndrome	Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ...	OMIM:616954
Melorheostosis	Increased bone mineral density, Joint stiffness, Lymphedema, Bone pain, Upper limb asymmetry, Aty...	ORPHA:2485
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl...	OMIM:617137
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Short neck, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus def...	OMIM:256520
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ...	OMIM:253010
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Ventricular septal defect, Short stature, Sagittal craniosynostosis, Mi...	OMIM:145420
Down Syndrome	Prenatal double bubble sign, Single transverse palmar crease, Hypoplastic iliac wing, Atrial sept...	OMIM:190685
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conduc...	OMIM:157800
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios...	ORPHA:65759
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Protruding ear	OMIM:618302
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Narrow palate, Multiple sut...	ORPHA:207
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs...	OMIM:618265
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Nonimmune hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Pulmonary hyp...	OMIM:613124
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Prominence of the premaxilla, Short stature, Delayed closure of the ant...	OMIM:614886
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla...	OMIM:616367
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Pulmonary artery atresia, Conductive ...	ORPHA:2876
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short stature, Single transverse palmar cr...	ORPHA:2332
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet...	ORPHA:2879
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Hydronephrosis, Hypoplastic left hear...	ORPHA:1727
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat...	OMIM:618363
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short neck, Abnormal lung lobation, Atrial septal defect, Conductiv...	ORPHA:567
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Delayed skeletal maturation, ...	OMIM:614450
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow palate, Fetal akinesia ...	OMIM:208150
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve...	OMIM:231070
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Anal stenosis, Short stature, Tracheomalacia, Micrognathia, Hypoplasia of...	ORPHA:314679
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,...	OMIM:613390
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Congeni...	OMIM:222448
Prune Belly Syndrome	Congenital hip dislocation, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspl...	ORPHA:2970
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas...	OMIM:300280
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Hydrops fetalis, Large fleshy ...	ORPHA:79328
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ...	ORPHA:373
Meckel Syndrome	Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P...	ORPHA:564
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Cleft palate, Abnormal form of the ...	ORPHA:3104
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Hamartoma of tongue, Hydrocephalus, Short n...	OMIM:616546
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Protruding ear, Atrial septal defect, Bifi...	OMIM:613458
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Pulmonic st...	OMIM:134780
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Pulmonary artery atres...	OMIM:616894
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h...	OMIM:607361
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:306542
Meier-Gorlin Syndrome 4	Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, C...	OMIM:613804
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Camptodactyly of toe, Branchial...	ORPHA:261337
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Macrotia, Decreased testicular s...	ORPHA:93950
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ...	ORPHA:584
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame...	OMIM:600001
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes...	ORPHA:1104
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Short stature, Fifth finger di...	OMIM:257850
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Congeni...	ORPHA:2143
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid...	ORPHA:1703
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven...	OMIM:618142
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Flattened femora...	ORPHA:79255
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef...	ORPHA:2756
Diaphanospondylodysostosis	Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar...	ORPHA:66637
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retarda...	ORPHA:254534
Monosomy 5P	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia, Short s...	ORPHA:281
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Holoprosencephaly	Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:2162
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne...	ORPHA:391641
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism,...	OMIM:601499
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar...	ORPHA:1110
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Micrognathia, Short neck, Pectus carinatum, Conductive hearing impairment,...	ORPHA:3082
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Renal cyst, ...	OMIM:611561
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma...	ORPHA:2145
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Short stature, Hyper...	ORPHA:577
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi...	OMIM:300484
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A...	OMIM:601809
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly	OMIM:614416
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Se...	OMIM:230500
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Polyhydramnios, Flexion contracture, Pterygium, Bifid uvula...	ORPHA:2671
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Osteo...	ORPHA:287
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular ...	ORPHA:672
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ...	OMIM:151200
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,...	OMIM:309620
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Short neck, High, narrow palate, Knee flexion contracture, High pala...	OMIM:613776
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Decreased fetal movement, Congenital diaphragmatic hernia, ...	OMIM:613630
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short st...	ORPHA:1988
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly...	ORPHA:137834
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Lumbar hyperlordosis, Vertebral fusion...	ORPHA:313892
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Polyhydramnios, Atrial ...	OMIM:229850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Pat...	ORPHA:77298
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Short stature, Micrognathia, Elbow dislocation, Hypoplasi...	OMIM:613805
Iniencephaly	Congenital diaphragmatic hernia, Polyhydramnios, Holoprosencephaly, Encephalocele, Rhizomelia, Sp...	ORPHA:63259
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Cervicomedullary schisis, Sensorineural hearing impairment,...	OMIM:118100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Polyhydramnios, Micrognathia, Short neck, Flexion contracture, High palate, S...	OMIM:620369
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Abnorma...	OMIM:600776
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan...	OMIM:616730
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin...	ORPHA:2554
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Premature birth, Beade...	OMIM:166210
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malformation of the hepatic duct...	OMIM:614175
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Polyhydramnios, Growth delay, Clinodactyly of the 5th finger	ORPHA:531
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 ver...	OMIM:617333
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoe...	ORPHA:268249
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Short stat...	ORPHA:582
Caudal Duplication	Omphalocele, Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sa...	ORPHA:1756
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease...	ORPHA:83617
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car...	ORPHA:295
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f...	ORPHA:828
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Retinal t...	OMIM:620157
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Thin upper lip vermilion...	OMIM:220500
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Wildervanck Syndrome	Fused cervical vertebrae, Congenital sensorineural hearing impairment, Meningocele, Short neck	ORPHA:3456
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co...	OMIM:150250
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, Bilateral cryptorchidism, High,...	ORPHA:485405
Cranioectodermal Dysplasia 2	Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, High palate, Narrow chest, Atrial sept...	OMIM:613610
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste...	OMIM:600325
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorc...	OMIM:617796
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atria...	OMIM:263520
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,...	ORPHA:2308
Gorlin-Chaudhry-Moss Syndrome	Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Abnormal metacarpal morpholog...	ORPHA:2095
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, A...	OMIM:245600
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Kyphoscoliosis, Micrognathia, Cox...	ORPHA:254519
1P36 Deletion Syndrome	Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the anus, Low-set, ...	ORPHA:1606
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Short stature, Dextrocardia, Abnormal odontoid process morpholog...	OMIM:613686
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi...	OMIM:617140
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart...	ORPHA:90308
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ...	OMIM:600987
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Ventric...	OMIM:174300
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Charge Syndrome	Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypo...	ORPHA:138
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul...	ORPHA:2924
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil...	ORPHA:314588
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Schisis Association	Encephalocele, Omphalocele, Premature birth, Micromelia, Spina bifida, Congenital diaphragmatic h...	ORPHA:63862
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Conductive hearing impairment,...	ORPHA:1513
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal...	ORPHA:958
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib...	ORPHA:2180
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Thickened nuchal skin fold, Vaginal hernia, Short statur...	ORPHA:2916
Noonan Syndrome 3	Polyhydramnios, Pectus carinatum, High palate, Atrial septal defect, Left unilambdoid synostosis,...	OMIM:609942
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee flexion contract...	OMIM:617402
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patellar subluxat...	ORPHA:2958
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Patent ductus arteriosus, Short thorax, S...	OMIM:618845
Waardenburg Syndrome Type 1	Mandibular prognathia, Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impa...	ORPHA:894
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Wide anterior fontanel, Macroglossia, Severe postnatal growth retardation, Umbilical...	OMIM:275100
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val...	ORPHA:1507
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Secundum atrial septal defect, Long hallux, Pectus carin...	OMIM:620194
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fet...	OMIM:618815
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, Knee flexion contr...	OMIM:121050
Neuraminidase Deficiency	Inguinal hernia, Short stature, Cardiomegaly, Facial edema, Sensorineural hearing impairment, Hyd...	OMIM:256550
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Lymphedema, Abnormal thorax ...	ORPHA:1318
Meckel Syndrome, Type 6	Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate...	OMIM:612284
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Knee flexi...	ORPHA:435638
Thoraco-Abdominal Enteric Duplication	Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Missing ribs, Diastomatomyelia, Me...	ORPHA:1759
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal d...	OMIM:300166
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Hydrolethalus Syndrome 1	Omphalocele, Abnormal pinna morphology, Ventricular septal defect, Polyhydramnios, Micrognathia, ...	OMIM:236680
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,...	ORPHA:95430
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th ...	OMIM:167730
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ears, Short sta...	ORPHA:1786
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:601163
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the middle ear ossicles, Preaxial ...	ORPHA:2549
Proteus Syndrome	Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal lung lobation, Abnormal form...	ORPHA:744
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Aplasia Cutis Congenita	Finger syndactyly, Prolonged bleeding time, Toe syndactyly, Spinal dysraphism, Abnormality of bon...	ORPHA:1114
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Scarring, Delayed eruption of primary teeth, Cryptorchidism,...	ORPHA:90322
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Sensorineural he...	ORPHA:3416
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Abnormal lung lobation, Cleft palate, Abnormal rib cage m...	OMIM:217100
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Lymphatic Malformation 6	Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Atrial septal d...	OMIM:616843
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial septal defect...	OMIM:241310
Mitochondrial Complex I Deficiency, Nuclear Type 35	Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arteri...	OMIM:619003
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, High palate, Ascending aortic di...	OMIM:616166
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph...	OMIM:617056
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Short stature, Recurrent fractures, Polyhydramnios, Micrognath...	ORPHA:1486
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Posteriorly rotated ears, Ventricular septal defect, Short stature,...	OMIM:618454
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Short thu...	OMIM:612561
Chromosome 3Pter-P25 Deletion Syndrome	Sacral dimple, Prominent metopic ridge, Overlapping toe, Short stature, Postaxial polydactyly, Mi...	OMIM:613792
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange...	OMIM:105650
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Abnormal ster...	ORPHA:2990
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Decreased fetal movement, Multiple joint contractures, Camptodactyly of finger, Abnormal pleura m...	ORPHA:2570
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial...	ORPHA:2745
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:615108
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Premature rupture of membranes, High...	OMIM:311900
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney...	OMIM:173900
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Abnormal cortical bone ...	ORPHA:2097
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Hemivertebrae, ...	OMIM:220210
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Osteopenia, Abnormally large globe, High palate, Broad ribs, Genu varum, S...	OMIM:269300
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Petechiae, Premature birth, Polyhydramnios, Micrognathia, Cardiomegaly,...	OMIM:608013
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Glossoptosis, High palate, Aspiration pneumonia, Conductive hearing impairment, Pat...	ORPHA:444077
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Genu recurvatum, Hydrocephalus, Hyperostosis,...	ORPHA:2969
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical scleros...	OMIM:122860
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Vent...	OMIM:618348
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Recurrent fractures, Micromelia, Cr...	ORPHA:2772
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abnormal cardiac ve...	ORPHA:261311
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, 2-3 toe syndactyl...	OMIM:106260
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Congenital diap...	ORPHA:1780
Meckel Syndrome 14	Occipital encephalocele, Micrognathia, Short neck, Holoprosencephaly, Single ventricle, Microretr...	OMIM:619879
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hydrocephalu...	ORPHA:377
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Protruding ear	OMIM:618737
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed...	ORPHA:50814
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi...	ORPHA:2972
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:615109
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped e...	ORPHA:2399
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Ventricular septal defect, Hydrocephalus, Large earlobe, Polydactyly, H...	OMIM:602501
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, High ...	OMIM:123500
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Mgat2-Cdg	Low-set, posteriorly rotated ears, Abnormal bleeding, Osteopenia, Posteriorly rotated ears, Ventr...	ORPHA:79329
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Increas...	OMIM:255320
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Cupped ear, Macrotia	ORPHA:93945
Alagille Syndrome	Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Telangiectasia of the sk...	ORPHA:52
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens...	ORPHA:93315
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Pul...	OMIM:612852
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic herni...	ORPHA:199
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Congenital contractur...	OMIM:248700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Atrial septal defect, Joint laxity, Prominent metopic ridge, Arachnodactyl...	OMIM:619721
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Single tra...	OMIM:618950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Renpenning Syndrome	Mandibular prognathia, Severe short stature, Joint stiffness, Pectus excavatum, Abnormal thumb mo...	ORPHA:3242
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Tapered finger, Pectus excavatum, Short n...	OMIM:607131
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l...	OMIM:619343
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Ventricular s...	OMIM:620210
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic...	ORPHA:2001
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact...	OMIM:101400
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Hernia...	ORPHA:955
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Intestinal malrotati...	OMIM:617602
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovar...	OMIM:601389
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ...	OMIM:171480
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect,...	OMIM:243150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp...	OMIM:608940
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Bicuspid aortic valve, Short...	ORPHA:96169
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Spina bif...	OMIM:617877
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi...	ORPHA:1299
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Delayed skeletal matu...	ORPHA:2475
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ear, Abnormality ...	ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso...	OMIM:611209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring	OMIM:603387
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vascular dilatation, Splenomegaly, ...	OMIM:216360
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop...	OMIM:169400
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Cervical cord compression, Short palm, Barr...	OMIM:607095
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Re...	OMIM:611134
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic...	ORPHA:79321
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Fg Syndrome Type 1	Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnormal sternum morphol...	ORPHA:93932
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Omphalocele, Asymmetry of the ears, Flexion contracture, Cleft palate, Talipes...	OMIM:619124
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Mild postnatal gr...	ORPHA:2136
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Severe short stature, Delayed skeletal maturation, Abnormal rib...	ORPHA:2643
Ankylosing Vertebral Hyperostosis With Tylosis	Punctate palmar hyperkeratosis, Vertebral hyperostosis	OMIM:106400
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation...	OMIM:219730
Robinow Syndrome	Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st...	ORPHA:97360
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An...	OMIM:164210
Chops Syndrome	Brachydactyly, Ventricular septal defect, Short stature, Tracheomalacia, High, narrow palate, Pat...	OMIM:616368
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Short foot...	ORPHA:250989
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Arachnodactyly, Pa...	ORPHA:276413
Trisomy 17P	Hypoplasia of penis, Urethral valve, Tapered finger, Patent ductus arteriosus, Urethral stenosis,...	ORPHA:261290
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin...	ORPHA:93351
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Vater/Vacterl Association	Occipital encephalocele, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, ...	OMIM:192350
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Premature birth, Edema, Hydrops fetalis, Oligohydramnios,...	ORPHA:79325
Digeorge Syndrome	High, narrow palate, Abnormal thymus morphology, High palate, Short philtrum, Hypoplasia of the t...	OMIM:188400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, Va...	OMIM:616307
Amish Lethal Microcephaly	Decreased fetal movement, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobi...	ORPHA:99742
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micr...	ORPHA:536532
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Wildervanck Syndrome	Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment	OMIM:314600
Nablus Mask-Like Facial Syndrome	Small earlobe, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Hypopla...	OMIM:608156
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Edema, Malabsorption, Abnormal sacroiliac joint morphology, A...	ORPHA:793
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept...	OMIM:194190
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Recurrent respiratory infections, Vertebral fusion, Severe short stature, Short statur...	OMIM:277300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, High, narrow palate, High palate, Narrow chest, Scapular...	OMIM:616914
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan...	ORPHA:261537
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela...	ORPHA:2414
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect...	OMIM:249420
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Macrotia, Patent ductus arteriosus, Cleft...	OMIM:616462
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Short stature, Micrognathia,...	ORPHA:1131
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Tricuspid regurgitation, Abnormal pinna morphology, Posteriorly rotated ears, ...	ORPHA:228396
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:158350
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Vertig...	ORPHA:268882
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Polyhydramnios, Short neck, Knee flexion contracture, H...	OMIM:193700
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus ...	ORPHA:363958
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ...	OMIM:612474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos...	OMIM:154400
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Trigonocephaly 1	Omphalocele, Craniosynostosis, High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Mec...	OMIM:190440
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin...	ORPHA:921
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala...	OMIM:300863
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Ure...	OMIM:273395
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Short stature, Sensorineural hearing impairment, Submucous ...	OMIM:617660
Craniofacioskeletal Syndrome	Atrial septal defect, Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hy...	OMIM:300712
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r...	ORPHA:3186
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Hypoplasi...	OMIM:609460
Three M Syndrome 1	Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of...	OMIM:273750
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio...	OMIM:601612
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation, Hepatomegaly	OMIM:614859
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephrocalcinosis, Cholelit...	OMIM:240300
Marshall Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Hypopla...	ORPHA:560
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Omphalocele, Short stature, Spina bifida, Sudden car...	ORPHA:991
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl...	OMIM:618955
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Joubert Syndrome 16	Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly	OMIM:611638
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Cutaneous finger syndactyly, Conductive hearing im...	OMIM:219000
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Atrial septal defect, Prominent fingertip pa...	OMIM:610443
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Amniotic constriction ring, Conductive hearing impairment, Advanced eruption of t...	ORPHA:2215
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Micrognathia, Postnatal growth retardation, Cryptorchidism, Oligohyd...	ORPHA:397590
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Decreased fetal movement, Fetal akinesia sequence, Flexion con...	ORPHA:85212
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection	OMIM:135580
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact...	OMIM:605627
Osteopathia Striata-Cranial Sclerosis Syndrome	Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ...	ORPHA:2780
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E...	ORPHA:2616
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata...	OMIM:259440
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Polyhydramnios, Narrow chest, Neonatal short-limb short stature, Severe l...	OMIM:151210
Mowat-Wilson Syndrome	Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan...	ORPHA:2152
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614870
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Atrial septal...	ORPHA:500150
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Polyhydramnios, Coxa vara, Pectus carinatum, High palate, W...	ORPHA:800
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly...	OMIM:129400
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Atrial septal def...	ORPHA:2044
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo...	OMIM:236500
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac...	OMIM:108300
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm...	OMIM:187600
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer...	ORPHA:464329
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Pectus excavatum...	ORPHA:1519
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho...	OMIM:619636
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ...	OMIM:208500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears, Chronic o...	ORPHA:276422
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Prematur...	ORPHA:1208
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Lethal Kniest-Like Dysplasia	Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Atrial septal defe...	ORPHA:2347
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Non-midline cleft lip, Abn...	ORPHA:2075
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Vertebral segmentatio...	OMIM:608022
Noonan Syndrome 13	Micrognathia, Short neck, Lymphedema, Enlarged thorax, High palate, Atrial septal defect, Joint l...	OMIM:619087
3Mc Syndrome 2	Prominence of the premaxilla, Diastasis recti, Limited elbow movement, Hearing impairment, Postna...	OMIM:265050
Faciodigitogenital Syndrome, Autosomal Recessive	High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Cryptorchidism, Microt...	OMIM:227330
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Ventricular septal defect, Optic nerve hypop...	OMIM:206900
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Th...	OMIM:615502
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,...	OMIM:617102
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Hemivert...	OMIM:173800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl...	ORPHA:94066
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Severe short stature, Short stature, Lumbar hyperlor...	OMIM:612921
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Unila...	OMIM:618494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Calcan...	ORPHA:261552
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Atrioventricular block, Abnormal...	ORPHA:581
Farber Disease	Abnormality of the knee, Short stature, Abnormality of the hand, Nodular pattern on pulmonary HRC...	ORPHA:333
Monosomy 18Q	Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tapered finger, ...	ORPHA:1600
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Nonimmune hydrops feta...	OMIM:618052
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Prematu...	ORPHA:40366
Cardiomyopathy, Familial Restrictive, 6	Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,...	OMIM:619433
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Gabriele-De Vries Syndrome	Hallux valgus, Sydney crease, Sandal gap, Posteriorly rotated ears, Micrognathia, Craniosynostosi...	ORPHA:506358
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc...	ORPHA:101028
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorch...	ORPHA:404440
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Emphysema, ...	OMIM:614816
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e...	OMIM:616294
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar syn...	OMIM:616738
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Arachnodactyly, Long palm, Posteriorly rotated ears, Missing ri...	ORPHA:2759
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Fragile X Syndrome	Mandibular prognathia, Macroorchidism, postpubertal, Joint laxity, Pectus excavatum, Mitral valve...	OMIM:300624
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Beaded ribs, Narrow chest, Conductive hearing impairment, Angulated humerus, Microret...	OMIM:616229
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops f...	ORPHA:834
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Gaucher Disease	Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Hydrops fetalis, Avascular necrosis, Ab...	ORPHA:355
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hern...	ORPHA:261197
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo...	OMIM:184250
Esophageal Atresia	Bronchitis, Polyhydramnios, Clinodactyly, Abnormality of the ear, Abnormal vertebral morphology, ...	ORPHA:1199
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Glycogen Storage Disease Iv	Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f...	OMIM:232500
Fraser Syndrome	Anophthalmia, Abnormal lung lobation, Vertebral segmentation defect, High palate, Conductive hear...	ORPHA:2052
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, C...	OMIM:615633
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hypopl...	OMIM:607014
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypop...	OMIM:252500
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Anencephaly 2	Anophthalmia, Anencephaly, Median cleft palate	OMIM:619452
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n...	OMIM:616629
Omphalocele	Omphalocele, Premature birth	ORPHA:660
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Otitis media, Chronic ot...	ORPHA:906
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, H...	ORPHA:264200
C Syndrome	Joint dislocation, Micromelia, Micrognathia, Short neck, Congenital diaphragmatic hernia, Polyhyd...	ORPHA:1308
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural th...	OMIM:620014
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Respiratory tra...	ORPHA:93400
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Cat Eye Syndrome	Micrognathia, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anomalous pulm...	OMIM:115470
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Recon Progeroid Syndrome	Attached earlobe, Joint laxity, Prominence of the premaxilla, Arachnodactyly, Short stature, Prox...	OMIM:620370
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi...	OMIM:609166
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Dyskeratosis Congenita	Recurrent respiratory infections, Esophageal stenosis, Telangiectasia of the skin, Short stature,...	ORPHA:1775
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal pinna morphology, Abnormal heart valve morphology, Short statur...	ORPHA:228410
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Micrognathia, Short toe, Hyd...	OMIM:617667
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l...	OMIM:616920
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Polyhydra...	ORPHA:818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Micrognathia, Short neck, Breech pr...	OMIM:300868
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg...	OMIM:153400
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate...	OMIM:122600
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n...	ORPHA:583
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Diastasis recti, Delayed closure of the anterior fontanelle, Postnatal growth reta...	ORPHA:231140
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Syndactyly, Hamartoma of tongue, Cleft upper lip...	OMIM:311200
Generalized Arterial Calcification Of Infancy	Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,...	ORPHA:51608
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc...	OMIM:614424
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Pectus excavatum, Palmar pits, Hydrocephalus, Kyphosis, Ab...	ORPHA:77301
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv...	OMIM:156550
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel...	OMIM:193500
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat...	ORPHA:397715
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi...	ORPHA:230851
Microcephaly With Cervical Spine Fusion Anomalies	Spinal cord compression, Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus...	OMIM:614576
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap...	ORPHA:2167
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Split hand, Cl...	OMIM:600460
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Abnormally ossified vertebrae, Polyhydramnios, Micrognathia, Missing ribs,...	ORPHA:3301
Okamoto Syndrome	Abnormally large globe, Primum atrial septal defect, Exaggerated median tongue furrow, Prominent ...	ORPHA:2729
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co...	ORPHA:261494
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary...	ORPHA:555874
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Micrognathia, Hyperlordosis, Kyphosis, Low-set ...	OMIM:615761
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve pr...	ORPHA:3238
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Joubert Syndrome 7	Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge...	OMIM:611560
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ...	OMIM:618914
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcin...	OMIM:135150
Au-Kline Syndrome	Vertebral segmentation defect, High palate, Clinodactyly of the 5th finger, Bifid uvula, Prominen...	OMIM:616580
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, High, narrow palate, Atrial septal defect, Clinodactyly of the 5th fing...	ORPHA:466791
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Short neck, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoospermia...	ORPHA:2183
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Hypoplasia of the maxilla, Coronal craniosynostosis, High palate, Conducti...	OMIM:614188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr...	OMIM:615398
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr...	ORPHA:163596
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Delayed skeletal maturation, Disproportionate short stature, Sma...	ORPHA:2868
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Hernia, Endocardial fibroelastosis, Abnormal vertebral ...	ORPHA:93473
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Postnatal grow...	ORPHA:93324
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing i...	OMIM:612938
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,...	ORPHA:90321
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H...	OMIM:117650
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp...	ORPHA:2319
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft palate, Growth delay, Clinodactyly of t...	OMIM:244600
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno...	ORPHA:1041
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Short neck, Kyph...	ORPHA:3191
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Short neck, Atrial septal defect, Conductive ...	OMIM:601808
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong...	ORPHA:1880
Hamamy Syndrome	Microcytic anemia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, S...	OMIM:611174
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Inguinal hernia, Severe short stature, Rhizomelia, Craniosynostosis...	ORPHA:2645
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abn...	ORPHA:324410
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Multiple joint contractures, Short stature, Right ventr...	ORPHA:324604
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Anteriorly placed anus, Hi...	ORPHA:798
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe,...	ORPHA:2886
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Short neck, Abnormal form o...	ORPHA:233
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve...	OMIM:619472
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front...	ORPHA:436003
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Wide mouth, Abnormal car...	OMIM:608776
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Hepatic c...	ORPHA:400
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Growth delay, Hearing i...	ORPHA:782
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Macroglossia, Scoliosis	OMIM:105830
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Walker-Warburg Syndrome	Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Submucous cleft hard palat...	ORPHA:899
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Holoprosencephaly 2	Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft...	OMIM:157170
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia...	OMIM:601559
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches...	ORPHA:96061
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Abnor...	OMIM:614437
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Broad hallux...	ORPHA:353281
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Geleophysic Dysplasia 1	Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Pectus exca...	OMIM:231050
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact...	OMIM:609008
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Extra concha fold, Micrognathia,...	OMIM:209885
Cloacal Exstrophy	Omphalocele, Intestinal malrotation, Spina bifida, Abnormal tibia morphology, Myelomeningocele, A...	ORPHA:93929
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C...	ORPHA:95699
Boudin-Mortier Syndrome	Long toe, Mallet finger, Joint laxity, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip...	OMIM:619543
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Atrial septal defect, Capitate-hamate fusion, Postaxial h...	OMIM:225500
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Abnormal tragus morp...	ORPHA:66625
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing imp...	ORPHA:959
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ...	OMIM:617168
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas...	OMIM:200980
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Mucopolysaccharidosis Type 1	Joint dislocation, Sinusitis, Abnormal form of the vertebral bodies, Enlarged thorax, Hernia, Chr...	ORPHA:579
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Abnor...	ORPHA:531151
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Anophthalmia, Large earlobe	ORPHA:411986
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Microphthalmia, Intrauterine growth retard...	ORPHA:195
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Campomelia, Cumming Type	Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia...	OMIM:211890
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Micrognathia, Short neck, Anteriorl...	OMIM:305450
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Micrognathia, Premature rupture of membranes, Short phalanx of finger, Joint laxity, ...	OMIM:225410
Marfan Syndrome	Osteopenia, Limited elbow movement, Micrognathia, High, narrow palate, Increased axial length of ...	ORPHA:558
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b...	ORPHA:93271
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Pectus carinatum, Sprengel anomaly, Severe sensorineu...	ORPHA:500
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Posteriorly rotated ears, Microg...	OMIM:300960
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Short neck, Polyhydramnios, Hemivertebrae, Rhizomelia, Abnormal thorax morphology, Epiphys...	OMIM:302960
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Short neck, Hyperlordosis...	ORPHA:710
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n...	OMIM:113620
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Hearing impairment	ORPHA:477774
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Premature rupture of...	ORPHA:2962
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Mi...	ORPHA:920
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hepa...	OMIM:602579
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ...	ORPHA:83
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, Protruding ear, Abnormal s...	ORPHA:2953
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Widely spaced teeth, High palate...	OMIM:266920
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl...	ORPHA:2769
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Accelerated skeletal matura...	ORPHA:116
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353277
Oculodentodigital Dysplasia	Atrial septal defect, Abnormal pinna morphology, Carious teeth, Conductive hearing impairment, 4-...	OMIM:164200
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Adducted thumb	ORPHA:89844
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial...	ORPHA:476126
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Hypop...	OMIM:129900
Diamond-Blackfan Anemia	Ventricular septal defect, Cleft soft palate, Short stature, Absent thumb, Micrognathia, Short th...	ORPHA:124
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso...	OMIM:618021
Cardiofaciocutaneous Syndrome	Short neck, Lymphedema, High palate, Atrial septal defect, Thickened helices, Low-set, posteriorl...	ORPHA:1340
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod...	ORPHA:2751
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G...	OMIM:616145
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Kn...	ORPHA:536545
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri...	ORPHA:292
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Hydronephrosis, Aplasia/Hypoplasia of t...	ORPHA:3305
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturat...	OMIM:614857
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari...	ORPHA:139471
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia,...	ORPHA:2754
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Inguinal hernia, Arachnodactyly, Protruding ea...	OMIM:615539
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Increased bone mineral density, Abn...	ORPHA:77261
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos...	OMIM:617088
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ...	ORPHA:3015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Pol...	ORPHA:508533
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Neonatal death, Atrial septal defect, Short stature, Cryptorchidism, Hydromyelia, Scoliosis, Umbi...	OMIM:308205
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Patent ductus art...	ORPHA:251071
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplast...	OMIM:187601
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho...	OMIM:614008
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Polyhydr...	OMIM:312870
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t...	ORPHA:1225
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Knee pain, Hyperostosis, Clubbing, Periostosis	OMIM:614441
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthro...	ORPHA:2848
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Atrial sep...	ORPHA:289
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Pectus carinatum,...	OMIM:151100
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal...	OMIM:309800
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death	OMIM:276822
Costello Syndrome	Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Ventricular septal defect, Abnorma...	ORPHA:3071
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, A...	ORPHA:251014
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal c...	ORPHA:166035
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ...	OMIM:244460
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema, Raynaud phenomenon, Cryptorchidism, Hemiatrophy, Scoliosis, Hypophospha...	ORPHA:2874
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ...	OMIM:119600
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Deep philtrum, Micronodu...	OMIM:606003
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Sub...	OMIM:222765
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, High, narrow palate, Ge...	ORPHA:1900
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal ...	OMIM:270400
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate,...	OMIM:268300
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Severe short stature, Abnormal heart valve morphology...	OMIM:309900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd...	ORPHA:91387
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Polyhydramnios, Late...	OMIM:615503
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Posteriorly rotated ears, Single transverse palmar crease, Short stature, Bifid dist...	OMIM:618419
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,...	ORPHA:2461
Mosaic Trisomy 16	Syndactyly, Single coronary artery origin, Ventricular septal defect, Single transverse palmar cr...	ORPHA:1708
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma...	OMIM:239800
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmune hydrops fetalis, Sensori...	OMIM:620167
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Short stature, Hyperlordosis, Delayed skele...	ORPHA:3068
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Metaphyseal widening, Cranial hyperostosis, Flar...	OMIM:123000
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Esophageal...	OMIM:617053
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteri...	OMIM:313850
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Metatarsus adduct...	OMIM:214110
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Abnormality of the philtru...	ORPHA:1770
Proteus Syndrome	Kyphoscoliosis, Spinal cord compression, Mandibular hyperostosis, Spinal canal stenosis, Multiple...	OMIM:176920
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Uplifted earlobe, Ky...	OMIM:616449
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Abnorma...	OMIM:300968
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre...	ORPHA:1782
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g...	ORPHA:513456
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Pectus excavatum,...	ORPHA:1812
Diffuse Neonatal Hemangiomatosis	Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites	ORPHA:2123
Mend Syndrome	Micrognathia, High palate, Broad hallux, Short stature, Wide anterior fontanel, Cryptorchidism, 2...	ORPHA:401973
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp...	OMIM:102500
Loeys-Dietz Syndrome 5	Osteoarthritis, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa valga, Patent...	OMIM:615582
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Abnormal renal ...	ORPHA:2209
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas, Tricuspid valv...	ORPHA:2396
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d...	OMIM:612562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, High palate, Macrovesicular hepatic steatosis, Antenatal intr...	OMIM:608836
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, Thin vermilion bord...	OMIM:618829
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio...	ORPHA:1923
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, O...	OMIM:252900
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ...	OMIM:612651
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper...	ORPHA:64755
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p...	ORPHA:667
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid...	ORPHA:1752
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Omphalocele, Abnormal pinna morphology, Micromelia, Short neck, Craniosynostos...	OMIM:200995
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia...	OMIM:276820
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramn...	ORPHA:1790
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti...	ORPHA:367
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pectus carinatum, High palate...	OMIM:208050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala...	OMIM:612541
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Tibial bowing, Long hallux, Multicystic kidney dysplasia, Varicose veins, ...	ORPHA:500095
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli...	ORPHA:1297
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Prolonged bleeding time, Abnormal...	ORPHA:1901
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Atrial septal defect, Arachnodactyly, Short stature, Micrognathia, Hyperlordosis, P...	OMIM:300986
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Pectus carinatum, At...	ORPHA:464738
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Protruding ear, Genu valgum, Joint hyperflexibility, Umbil...	ORPHA:1778
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectu...	ORPHA:309282
Geleophysic Dysplasia 2	Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal matu...	OMIM:614185
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Abnormal rib morphology, Cleft palate, Azoospermia, Abnormality of t...	OMIM:601076
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur...	OMIM:259050
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta...	ORPHA:50815
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d...	OMIM:618395
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Conductive hearing impairment, Clinodac...	OMIM:611962
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3236
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding...	ORPHA:352665
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Subdural h...	ORPHA:79282
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A...	OMIM:607155
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Protr...	ORPHA:319171
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Tethered cord, ...	OMIM:258040
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mouth, Talipes eq...	OMIM:617260
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Flexion contracture, Prematu...	OMIM:275210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Deep p...	OMIM:617506
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short stature, Abnormal morphology of ulna, Short neck, Mitral valve prolapse, High palate, Abnor...	ORPHA:2233
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Hypospadias, Abnormal renal collecti...	ORPHA:17
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Joint laxity, Inguinal hernia, Genu recurvatum, Pectus excavatum, Calcaneov...	OMIM:225320
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Micrognathia, Recurrent pneumonia, Abnormal heart morphology, High palat...	ORPHA:314655
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Mit...	OMIM:166200
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, Hi...	OMIM:607932
Arthrogryposis Multiplex Congenita 5	Polyhydramnios, Micrognathia, Short neck, Flexion contracture, Scoliosis, Hand clenching, Umbilic...	OMIM:618947
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidn...	ORPHA:96167
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Arachnodactyly, Myocardial infarction, Kyphoscoliosis, Pectus excavatum, Limitat...	OMIM:236200
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Cleft lip, Pul...	OMIM:611812
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t...	OMIM:617107
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Jejunal atresia, Ileal atresia, Micrognathia, Kyphoscoliosis, Cryptorchi...	OMIM:618820
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Posteriorly rotated ears, Spina bifida, Tapered finger, Patent ductus arteriosus, ...	OMIM:619480
Noonan Syndrome 2	Polyhydramnios, Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High pal...	OMIM:605275
Branchiootic Syndrome	Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ...	ORPHA:52429
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,...	OMIM:250410
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort...	ORPHA:141127
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Wide anterior fontanel, P...	ORPHA:313781
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia	ORPHA:141333
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patel...	ORPHA:85201
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Hemochromatosis, Neonatal	Abnormal bleeding, Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Peutz-Jeghers Syndrome	Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, R...	ORPHA:2869
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin...	ORPHA:1145
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint laxity, Hyperplasia of the maxilla	OMIM:613671
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r...	OMIM:618839
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ...	ORPHA:2273
Kbg Syndrome	Syndactyly, Vertebral fusion, Posteriorly rotated ears, Single transverse palmar crease, Short st...	OMIM:148050
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Short ...	OMIM:616202
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Mild postnatal growth retardation, Nonimmune hydrops fetalis, E...	OMIM:265300
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Posteriorly rotated ears, Short stature, Polyhydramnios, ...	OMIM:619745
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Premature rupture of membranes, Short 4th toe, Atrial septal defect, Clinoda...	OMIM:615873
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype...	OMIM:618835
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ...	OMIM:267000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Patent ductus arteriosu...	ORPHA:369837
Split Cord Malformation	Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Talip...	ORPHA:573278
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Posteriorly rotated ears, ...	ORPHA:2211
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu...	ORPHA:2165
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ...	OMIM:244300
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Conductive h...	ORPHA:576
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:113650
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Hydrocephalus, Aplasia/Hypoplas...	ORPHA:1555
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor...	OMIM:252600
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac...	OMIM:614922
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusi...	OMIM:612731
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Camptodactyly of finger, Micrognathia, High, ...	ORPHA:1968
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Bell-shap...	OMIM:615636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauterine growth ret...	OMIM:616910
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion...	OMIM:212065
Enlarged Parietal Foramina	Cleft lip, Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous ...	ORPHA:60015
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hi...	OMIM:616362
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus to...	ORPHA:1666
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encepha...	ORPHA:280195
Toriello-Carey Syndrome	Micrognathia, Short neck, Anteriorly placed anus, Anotia, High palate, Narrow chest, Thickened he...	ORPHA:3338
Tetrasomy 9P	Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philtrum, Clino...	ORPHA:3310
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Microtia, third degree, Aplastic z...	OMIM:200110
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy...	ORPHA:69735
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Protruding ear, Short stature, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary t...	ORPHA:268261
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Polyhy...	OMIM:218040
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism, Scoliosis, Lipoma	OMIM:612918
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Absence of Stensen duct, Hypoplastic sacrum, Hypoplasia of the max...	OMIM:604292
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Duodenal...	ORPHA:2470
Isolated Cleft Lip	Polyhydramnios, Situs inversus totalis, Conductive hearing impairment, Velopharyngeal insufficien...	ORPHA:199302
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hy...	ORPHA:96149
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Abnormal shoulder...	ORPHA:2115
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatiti...	OMIM:145001
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, M...	OMIM:278250
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Cardiomegaly, Periorbital...	ORPHA:904
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, High palate, Atrial septal defect, Intrauterine growth ...	OMIM:619488
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of...	OMIM:122880
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism, Hearing abnormality, Hydrocephalus, Hyperostosis	ORPHA:3205
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Pectus excavatum, Unilateral microphthalmos, Mitral valve prolapse, Bilateral clef...	OMIM:618874
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon...	ORPHA:445038
Spondyloocular Syndrome	Osteopenia, Lymphedema, Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe...	OMIM:605822
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp...	OMIM:614294
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist...	ORPHA:1647
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneum...	OMIM:230900
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Short neck, Delayed skeletal maturation, Small hand, Abnor...	ORPHA:488434
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Septo-optic dysplasia, A...	ORPHA:59315
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Ab...	ORPHA:3145
Mucopolysaccharidosis, Type X	Aortic regurgitation, Irregular acetabular roof, Beaking of vertebral bodies, Thickened aortic va...	OMIM:619698
Noonan Syndrome 10	Short neck, Pectus carinatum, High palate, Atrial septal defect, Short stature, Cryptorchidism, P...	OMIM:616564
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ...	ORPHA:1662
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Short stature, Postaxial...	OMIM:619185
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Pectus excavatum, Hydrocephalus, Patent ductus arteriosus...	OMIM:104350
Myotubular Myopathy With Abnormal Genital Development	Decreased fetal movement, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, At...	OMIM:300219
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi...	ORPHA:63
Mass Syndrome	Arachnodactyly, Dural ectasia, Mitral valve prolapse, Pectus carinatum, Scoliosis	OMIM:604308
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia...	ORPHA:3027
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hypoplastic aortic arch, Hip dysp...	ORPHA:457284
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Sple...	OMIM:235255
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A...	ORPHA:3474
Faciocardiorenal Syndrome	Cleft palate, Endocardial fibroelastosis, Tricuspid valve prolapse, Protruding ear	ORPHA:1973
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula	ORPHA:2736
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronc...	ORPHA:1163
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,...	ORPHA:2257
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Coarctation of aorta, Submucous cleft of soft ...	OMIM:301022
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Sacral dimple, Short stature, Single transverse palmar crease,...	OMIM:619297
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, T...	OMIM:613603
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi...	ORPHA:141099
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar...	ORPHA:284984
Fragile X Syndrome	Mandibular prognathia, Joint laxity, Sinusitis, Macroorchidism, Mitral valve prolapse, Protruding...	ORPHA:908
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Glossoptosis, Clinodactyly...	ORPHA:2031
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, Increased connective tissue, Multiple ...	ORPHA:171430
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis	ORPHA:88618
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Abnormal sternum morphology, Atria...	OMIM:609192
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hepatomegaly, Aortic arch ane...	OMIM:135500
Distal Deletion 3P	Low-set, posteriorly rotated ears, Sacral dimple, Inguinal hernia, Short stature, Micrognathia, S...	ORPHA:1620
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fe...	OMIM:137940
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri...	ORPHA:1556
Central Core Disease	Joint laxity, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Fetal akin...	ORPHA:597
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Hearin...	OMIM:618838
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Liver abscess, Abnormal pericardium morphology, Portal hypertens...	ORPHA:284
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Accessory spleen, Rhizomelia, Overlapping toe, Arachnoda...	ORPHA:3379
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver...	OMIM:271520
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Coarse metaphyseal trabecularization, Sho...	ORPHA:2801
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy...	OMIM:107480
8P11.2 Deletion Syndrome	Sacral dimple, Short stature, Micrognathia, External ear malformation, Cryptorchidism, Patent duc...	ORPHA:251066
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Uplifted earlobe, Congenital diaphragmatic hernia, High, n...	OMIM:613406
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Single transverse palma...	OMIM:614866
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Renal agenesis, Absent thumb, Esophageal atresia, Pat...	OMIM:300514
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Wide cranial sutures, Short femur, Inguinal hernia, Meta...	OMIM:618188
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Congestive heart failure, Abnormal m...	ORPHA:52430
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental enamel morph...	ORPHA:3253
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial se...	OMIM:300855
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short neck, High palate, Short palm, Duplication of the distal phalanx of hand, Dis...	OMIM:180700
Sirenomelia	Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o...	ORPHA:3169
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Opsismodysplasia	Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact...	OMIM:617527
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Anotia, H...	ORPHA:261112
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Protruding ear, Clinodactyly of the 5th finger, Abnormality of the c...	ORPHA:464306
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Preaxial polydactyly, Aplasia of the epiglottis, Anteriorl...	OMIM:615948
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Joint hypermobility, Mitral valve prolapse, Joint hyperflexibility, ...	ORPHA:230839
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis, Xerostomia, Abnormality of the abdominal wall	ORPHA:238468
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Submucous cleft hard palate, D...	OMIM:619122
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Short stature, Malar prominence, Large earlobe, Joint hyperfle...	ORPHA:2715
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Ventricular septal defect, Polyhydramnios, Micrognathia, Abnormally large globe,...	ORPHA:1655
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph...	ORPHA:263508
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Short stature, Absent thum...	OMIM:614900
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Prominent metopic ridge, Short s...	ORPHA:1272
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Lymphatic Malformation 5	Hypoplasia of lymphatic vessels, Cleft palate	OMIM:153200
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Single ...	ORPHA:444072
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Meester-Loeys Syndrome	Joint dislocation, Arachnodactyly, Short stature, Mitral valve prolapse, Cervical spine instabili...	OMIM:300989
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th...	OMIM:612289
Familial Multiple Lipomatosis	Bowing of the long bones, Lipodystrophy, Accelerated skeletal maturation, Increased adipose tissu...	ORPHA:199276
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Scoli...	OMIM:229200
Mitral Valve Prolapse 1	Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, Mitral valve prola...	OMIM:157700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis...	ORPHA:49
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula, Lymphangioma	OMIM:149000
Prolidase Deficiency	Recurrent respiratory infections, Arachnodactyly, Hearing impairment, Micrognathia, Carious teeth...	ORPHA:742
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cleft palate, Renal cyst, Micropenis, ...	OMIM:257300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag...	OMIM:614749
Loeys-Dietz Syndrome 3	Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo...	OMIM:613795
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ...	ORPHA:2519
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat...	OMIM:618651
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger...	ORPHA:464
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Patent f...	OMIM:619127
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Bila...	ORPHA:544488
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Joint...	ORPHA:115
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl...	OMIM:609015
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d...	OMIM:616331
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Dehydration, Protruding ear, Chronic otitis media, Low-set, ...	ORPHA:534
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Reduced subcutaneous adipose tissue, Ventricular sep...	ORPHA:769
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi...	ORPHA:1506
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid...	OMIM:209900
Neurofibromatosis, Type I	Short stature, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudar...	OMIM:162200
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Okur-Chung Neurodevelopmental Syndrome	Inguinal hernia, Broad hallux, Single transverse palmar crease, Polyhydramnios, Micrognathia, Pro...	OMIM:617062
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart...	ORPHA:137667
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Short stature, Patent du...	OMIM:602782
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227990
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly	OMIM:147250
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d...	ORPHA:857
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Joubert Syndrome 39	Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxi...	OMIM:619562
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:3044
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Multicystic kidney dysplasia, Abnormal lung lobation,...	ORPHA:1052
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Disproportionate sh...	OMIM:608681
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Atrial septal de...	ORPHA:363700
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava...	ORPHA:555877
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Cryptorchidism, Umbil...	ORPHA:2241
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral...	ORPHA:2234
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde...	ORPHA:79404
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi...	OMIM:606232
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ...	ORPHA:69085
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Periorb...	OMIM:613177
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas...	ORPHA:79303
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl...	OMIM:610199
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Cryptorchidism, Split hand, Abn...	ORPHA:1300
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne...	OMIM:314400
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Thin ve...	OMIM:619869
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Hypospadias, Cleft lip, Patent ductus arteriosus, Vesicour...	OMIM:616975
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption...	ORPHA:912
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Lethal Congenital Contracture Syndrome 9	Polyhydramnios, Micrognathia, Flexion contracture, Congenital contracture, Wrist flexion contract...	OMIM:616503
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Mic...	OMIM:613884
Adnp Syndrome	Joint laxity, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Short s...	ORPHA:404448
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,...	OMIM:614800
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease...	OMIM:618161
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, H...	ORPHA:2578
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Fetal peric...	OMIM:620244
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227982
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,...	ORPHA:110
Anemia, Congenital Dyserythropoietic, Type Iv	Wide anterior fontanel, Hypertrophic cardiomyopathy, Short stature, Hydrops fetalis	OMIM:613673
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Ventricular septal defect, Short stature, Micrognathia, Congenital diap...	OMIM:613309
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microph...	ORPHA:2250
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Cleft palate, Mitr...	ORPHA:90354
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Premature rupture of...	ORPHA:2834
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Hartsfield Syndrome	Syndactyly, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Cryptorchidism,...	OMIM:615465
Exstrophy-Epispadias Complex	Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Cryptorchidism, Hydrocephalus, Abnorma...	ORPHA:322
Bifid Nose With Or Without Anorectal And Renal Anomalies	Posteriorly rotated ears, Ebstein anomaly of the tricuspid valve, Anteriorly placed anus, Rectova...	OMIM:608980
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov...	OMIM:252930
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin...	ORPHA:97362
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Protruding ear, Panniculitis, Chylothorax,...	ORPHA:2526
Restrictive Dermopathy 2	Microretrognathia, Decreased fetal movement, Rectal prolapse, Hypoplastic facial bones, Overtubul...	OMIM:619793
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Hypoplasia of ...	OMIM:118450
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Cryptorchidism, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Cardiomegaly, Joint stiffness, Recurrent upper respiratory tract infections, Ovoi...	OMIM:252920
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor...	ORPHA:93941
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, High...	OMIM:218330
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Single transverse palmar crease, Myocardial infarction, Cranial hyperostosis, Hip ...	ORPHA:457240
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Dominant Beta-Thalassemia	Bowing of the long bones, Malar prominence, High-output congestive heart failure, Dilated cardiom...	ORPHA:231226
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Cryptorchidism, Protruding ear, Hypoplasia of the zy...	ORPHA:1920
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Pat...	ORPHA:464311
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing...	ORPHA:261349
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Clubbing of fingers, Abnormal umbilica...	ORPHA:335
Acromelic Frontonasal Dysostosis	Syndactyly, Dilation of Virchow-Robin spaces, Cleft upper lip, Preaxial polydactyly, Preaxial foo...	OMIM:603671
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neonatal short-limb sh...	OMIM:250250
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly	OMIM:119580
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Atrial septal defect, Conductive hearing impa...	OMIM:136140
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer...	ORPHA:436252
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, A...	ORPHA:95706
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ...	ORPHA:1454
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney, Radioulnar syn...	OMIM:248340
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Isolated Anencephaly	Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Pre...	OMIM:243605
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpa...	ORPHA:1295
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Abnormalit...	ORPHA:538
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Prominent interphalangeal joint...	OMIM:135900
Xylt1-Cdg	Joint dislocation, Joint laxity, Short stature, Coxa valga, Accelerated skeletal maturation, Flar...	ORPHA:370930
Trisomy 10P	Thumb contracture, Absent gallbladder, Abnormality of the kidney, Abnormality of the hand, Short ...	ORPHA:171929
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Short stature, Micrognathia, Hydrocephalus, Cranial hyperostosis,...	OMIM:259720
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,...	OMIM:191100
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Hyperkeratosis ...	OMIM:153100
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Patent ductus a...	ORPHA:33001
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Trismus, A...	ORPHA:2907
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous...	OMIM:175050
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss...	OMIM:213300
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr...	OMIM:600145
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D...	ORPHA:90646
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Lobar holoprosencephaly, Growth delay, Microtia, Hypoplasia of ...	OMIM:618500
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microphthalmia, 3-4...	OMIM:615877
Beta-Thalassemia Major	Bowing of the long bones, Malar prominence, High-output congestive heart failure, Dilated cardiom...	ORPHA:231214
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Short stature	ORPHA:2835
Joubert Syndrome 23	Polydactyly	OMIM:616490
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Thickened nuchal skin fold, Angina ...	ORPHA:758
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Peters Plus Syndrome	Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W...	ORPHA:709
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Narrow chest, Small...	OMIM:264090
D-Bifunctional Protein Deficiency	Hepatomegaly, Splenomegaly, Split hand, Cholestasis, Renal cyst, Hammertoe, High palate, Talipes ...	OMIM:261515
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal...	OMIM:619471
Legius Syndrome	Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Mitral valve prolaps...	ORPHA:137605
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Kyphosis,...	OMIM:177850
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal h...	ORPHA:26791
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat...	OMIM:203500
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyur...	ORPHA:449395
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, 2...	OMIM:620025
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Pearson Syndrome	Hearing impairment, Cardiac conduction abnormality, Postnatal growth retardation, Hydrops fetalis...	ORPHA:699
Joubert Syndrome 2	Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, High pal...	OMIM:608091
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Bladder Exstrophy	Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm...	ORPHA:93930
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Congenital hip dislocation, Premature rupture of membranes, Joint ...	OMIM:225400
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea...	ORPHA:805
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs	OMIM:152800
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Single umbilical artery, Narrow chest...	OMIM:182210
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, High palate, Hypopla...	ORPHA:556955
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Short stature, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal scl...	OMIM:260400
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Mild postnatal growth retardation, Hydrops fetalis	OMIM:224120
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ...	ORPHA:480880
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Renal c...	ORPHA:137675
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone	ORPHA:3074
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha...	OMIM:613254
Lymphedema-Hypoparathyroidism Syndrome	Short stature, Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carrying ...	OMIM:247410
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Hearing imp...	OMIM:239100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Pectus excavatum, Mitral val...	ORPHA:171881
Ehlers-Danlos Syndrome, Vascular Type	Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu...	OMIM:130050
Culler-Jones Syndrome	Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Trichohepatoenteric Syndrome 1	Villous atrophy, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Increased mean platele...	OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Breech presentation, Int...	OMIM:615824
Lumbar Syndrome	Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia	ORPHA:83628
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Malar flattening, Tapered finger, Hyperlordosis, Hip dislocation, Cleft...	OMIM:301066
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614862
Hepatoerythropoietic Porphyria	Abnormal bleeding, Osteopenia, Erythrodontia, Scarring, Edema, Nonimmune hydrops fetalis, Scarrin...	ORPHA:95159
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Bradycar...	OMIM:617397
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of...	ORPHA:480520
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Beckwith-Wiedemann Syndrome	Omphalocele, Prominent metopic ridge, Diastasis recti, Cardiomegaly, Accelerated skeletal maturat...	OMIM:130650
Familial Tumoral Calcinosis	Hyperostosis, Bone pain	ORPHA:53715
Coccidioidomycosis	Pericarditis, Osteomyelitis, Pneumonia, Hydrocephalus, Vasculitis, Osteolysis, Abnormal long bone...	ORPHA:228123
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Gastritis, Vasculitis, Hydrops fetalis, Arthritis, Colitis, Panniculitis, Pulm...	ORPHA:3261
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Cl...	OMIM:194050
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Macroorchidism, Abnorma...	ORPHA:93
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Neurooculorenal Syndrome	Mixed hearing impairment, Dextrocardia, Short hallux, Micrognathia, Intestinal malrotation, Paten...	OMIM:620305
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Joint laxity, Mitral valve prolapse, Hypertension, Scoliosis, Recurrent ot...	ORPHA:449291
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Broad distal phalanx of the thumb, Sh...	ORPHA:79443
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Colonic Atresia	Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia	ORPHA:1198
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra...	OMIM:615220
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Prolonged prothrombin time, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor...	OMIM:184253
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Hydrocele testis...	OMIM:607823
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Short stature, Increased inte...	OMIM:619727
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis	OMIM:601539
Alstrom Syndrome	Short stature, Abnormality of the hand, Accelerated skeletal maturation, Congestive heart failure...	OMIM:203800
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Congenital Erythropoietic Porphyria	Abnormal bleeding, Osteopenia, Erythrodontia, Scarring, Edema, Increased connective tissue, Nonim...	ORPHA:79277
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Cranium bifidum occultum, Malar flattening, Microphthalmia, Bifid uvula...	OMIM:229400
Split Lower Lip	Narrow maxilla	OMIM:183400
Isolated Exencephaly	Polyhydramnios, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Hypoplasia ...	ORPHA:563612
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Narro...	OMIM:619268
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri...	ORPHA:552
Semilobar Holoprosencephaly	Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Flexion contract...	ORPHA:93924
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Microphthalmia, Mild short...	OMIM:614833
Immunodeficiency 96	Recurrent lower respiratory tract infections, Increased proportion of gamma-delta T cells, Increa...	OMIM:619774
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:881
Ileal Neuroendocrine Tumor	Intestinal fistula, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Pal...	ORPHA:100078
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Mitral valve prolapse, Atr...	OMIM:606408
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte...	OMIM:100300
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat...	OMIM:301043
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula...	OMIM:606170
Orofaciodigital Syndrome Type 14	Broad hallux, Deviation of the hallux, Ventricular septal defect, Accessory oral frenulum, Hamart...	ORPHA:434179
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Protruding ea...	ORPHA:286
Lethal Congenital Contracture Syndrome 5	Decreased fetal movement, Polyhydramnios, Flexion contracture, Subdural hemorrhage, Retinal hemor...	OMIM:615368
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Hypoplasia of the iris, Aniridia, Anal ...	OMIM:180500
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi...	OMIM:613717
Lead Poisoning	Delayed eruption of teeth, Premature birth, Delayed skeletal maturation, Cranial hyperostosis, Ol...	ORPHA:330015
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hearing impairment	OMIM:256540
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carci...	OMIM:193300
Dahlberg-Borer-Newcomer Syndrome	Short stature, Lymphedema, Mitral valve prolapse, Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Choanal Atresia	Recurrent respiratory infections, Craniosynostosis, Polydactyly, Tracheomalacia, Chronic sinusitis	ORPHA:137914
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Eso...	ORPHA:2908
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Underdeveloped superior crus of antihe...	ORPHA:369950
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Renal hamartoma, Nephrolithiasis, R...	ORPHA:99880
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Osteopetrosis With Renal Tubular Acidosis	Short stature, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Micrognathia,...	ORPHA:2785
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Decreased fetal movement, Polyhydramnios, Cryptorchidism...	ORPHA:169189
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Renal hamartoma, Nephrolithiasis, R...	ORPHA:143
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Niemann-Pick Disease Type C	Fetal ascites, Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Hy...	ORPHA:646
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Delayed skeletal maturation, Steatorrhea, Calvarial hyperostosis	OMIM:612714
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Steatorrhea	OMIM:557000
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea...	ORPHA:261265
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Delayed skeletal m...	ORPHA:95494
Hyperostosis Cranialis Interna	Abnormal vestibular function, Sensorineural hearing impairment, Osteosclerosis of the base of the...	OMIM:144755
Isolated Posterior Meningocele	Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t...	ORPHA:268810
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis	ORPHA:288
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema	ORPHA:97330
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Recur...	OMIM:612301
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Short stature	OMIM:601345
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Wrist flexion contracture, ...	OMIM:618733
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops...	OMIM:602522
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Tricuspid stenosis, Midgut malrotation, Heart murmur, Palpitations, Hypotension...	ORPHA:100079
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ...	ORPHA:3427
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla	OMIM:313500
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh...	ORPHA:99827
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Scoliosis, Anal atresia	ORPHA:3164
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli...	OMIM:235730
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Mpdu1-Cdg	Thin vermilion border, Renal cortical cysts	ORPHA:79323
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis	OMIM:614688
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly	ORPHA:163681
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Renal cortical cysts, Downturned corners of mouth, Long philtrum, Vesic...	OMIM:618548
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Hemorrhagic Fever-Renal Syndrome	Shock, Back pain, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Capillary leak, Intracranial he...	ORPHA:340
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Tented philtrum, Renal cyst, Anteriorly placed anus, Long philtrum	ORPHA:495875
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Pericarditis, Tachycardia, Back pain, Excessive bleeding after a venipu...	ORPHA:99826
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Hand oligodactyly	ORPHA:45358
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal maturation, Hypoplasia of t...	ORPHA:64
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Proteinuria, Impaired neutrophil chemotaxis, Pericardial ...	ORPHA:79318
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal testis morphology, Atyp...	ORPHA:791
Retinitis Pigmentosa 80	Cone-shaped epiphyses of the phalanges of the hand	OMIM:617781

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ift140

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ift140.

There are 12 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.	PLoS biology (December 2023)	Ift140^{tm1a(KOMP)Wtsi}	PMC10735189
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ift140^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC6459510
Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.	Cytoskeleton (Hoboken, N.J.) (January 2018)	Ift140^{tm1c(KOMP)Wtsi}	PMC5809318
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Ift140^{tm1a(KOMP)Wtsi}	PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ift140^{tm1a(KOMP)Wtsi}	PMC5827107
Distinct functions for IFT140 and IFT20 in opsin transport.	Cytoskeleton (Hoboken, N.J.) (March 2014)	Ift140^{tm1c(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC4173073
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.	PLoS genetics (August 2013)	Ift140^{tm1a(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC3757063
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.	Human mutation (May 2013)	Ift140^{tm1b(KOMP)Wtsi}	PMC4226634
Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation.	Journal of the American Society of Nephrology : JASN (January 2012)	Ift140^{tm1c(KOMP)Wtsi} Ift140^{tm1a(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC3312512

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ift140^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ift140^{tm43321(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ift140^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ift140 MGI:2146906

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

DSS Histology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Ift140 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data