Gene Summary

Name:
transforming growth factor, beta receptor III
Synonyms:
TBRIII,  1110036H20Rik,  betaglycan

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Tgfbr3em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Tgfbr3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Tgfbr3em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
hemorrhage Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Tgfbr3em1(IMPC)Mbp HET E15.5 0.00
enlarged kidney Tgfbr3em1(IMPC)Mbp HET Early adult 0.00
abnormal liver size Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
edema Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
pale liver Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Tgfbr3em1(IMPC)Mbp HOM E15.5 0.00

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

82 Images

Gross Morphology Embryo E14.5-E15.5

Images

23 Images

MicroCT E14.5-E15.5

Embryo reconstruction

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

Gross Morphology Embryo E9.5

Images

7 Images

Human diseases caused by Tgfbr3 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.

The table below shows human diseases associated to Tgfbr3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160

The table below shows human diseases predicted to be associated to Tgfbr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Pierre Robin Syndrome
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:261800
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:311895
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Auriculocondylar Syndrome 4
Narrow mouth, Cleft palate, Glossoptosis OMIM:620457
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Mesomelic/rhiz... ORPHA:1354
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v... OMIM:620203
Gombo Syndrome
Microphthalmia OMIM:233270
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Elevated circulating hepatic transaminase concentr... OMIM:189800
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pectu... OMIM:142900
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Coxa... ORPHA:1988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Adducted thumb, Muscular ventricular septal defect, Brachydactyly OMIM:620062
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Micromelia, ... ORPHA:64755
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary ... OMIM:608978
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Slender finger OMIM:609813
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia ORPHA:141152
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Nanophthalmos 4
Microphthalmia OMIM:615972
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Rhizomelia, Short long bone, Posterior rib gap, Camptodactyly, Rib fusio... OMIM:611209
Holt-Oram Syndrome
Pectus excavatum, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal metacarpal mo... ORPHA:392
Sandestig-Stefanova Syndrome
Rocker bottom foot, Perimembranous ventricular septal defect, Muscular ventricular septal defect,... OMIM:618804
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Premature ovarian i... ORPHA:363444
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han... OMIM:618569
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Cleft palate, Glossoptosis ORPHA:166100
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth... OMIM:614669
Burning Mouth Syndrome
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm... ORPHA:353253
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Smooth philtrum, Protruding tongue OMIM:618732
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Catel-Manzke Syndrome
Cleft palate, Glossoptosis, Oral synechia ORPHA:1388
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Spina bifida occulta, Finger syndactyly, Short thorax, Abnormal ... ORPHA:2311
Hartnup Disorder
Glossitis OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Metatropic Dysplasia
Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Long coccyx, Flared iliac wing, F... OMIM:156530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Limb hypertonia, Multiple muscular ventricular septal defects, Pericardial ef... OMIM:620070
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Hypochromic microcytic anemia, Prolonged QT interval, Elevate... ORPHA:66634
Cleft Soft Palate
Cleft soft palate OMIM:119570
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Hepatomegaly, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of th... OMIM:615630
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Sotos Syndrome
Genu valgum, Muscular ventricular septal defect, Prolonged neonatal jaundice, Large hands, Long p... OMIM:117550
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Hypertension, Prol... OMIM:210710
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Neonatal death,... OMIM:314390
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... ORPHA:3241
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Bell-shaped thorax, Short thorax, Pec... OMIM:613686
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Hand polydactyly... ORPHA:261197
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula... ORPHA:1801
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Alg12-Cdg
Muscular ventricular septal defect, Clinodactyly of the 5th finger, Proximal placement of thumb, ... ORPHA:79324
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Spina bifida occulta, Finger syndactyly, Abnormal sternum morph... ORPHA:2990
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion ORPHA:1797
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Pectus excavatum, B... OMIM:268310
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Situs inversus totalis, Hepatomegaly, Femoral bowing, Cholestasis, Truncus arteriosus... OMIM:615415
Hypoglossia With Situs Inversus
Narrow mouth, Hypodontia, High palate, Microglossia OMIM:612776
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndactyly, Talipes equinovaru... OMIM:134780
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Broad thumb, Mesome... ORPHA:1507
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Patent duct... OMIM:313850
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Microglossia, Long philtrum OMIM:277720
Carpenter Syndrome 1
Transposition of the great arteries, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Paten... OMIM:201000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short long bone, Short... OMIM:615503
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Hypopl... OMIM:608728
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Muscular ventricular septal defect, Pectus excavatum, Spina bifida occulta OMIM:619227
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Facial palsy, Abnormal rib morphology ORPHA:2790
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft palate, Patent ductus arteriosus, Bifid tongue ORPHA:2001
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo... ORPHA:530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele OMIM:218670
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Gorlin Syndrome
Abnormal rib morphology, Rib fusion, Cardiac fibroma, Arachnodactyly, Anterior rib cupping, Brach... ORPHA:377
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert... OMIM:253800
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Elevated circulating hepatic transaminase concentration, Myocardial... OMIM:260400
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Rhizomelic Chondrodysplasia Punctata, Type 5
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Sinus tachycar... OMIM:616716
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short middle phalanx of th... ORPHA:391641
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furrowed tongue ORPHA:1387
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Foot oligodactyly, Splenomegaly... OMIM:616589
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Mmep Syndrome
Microphthalmia ORPHA:3434
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Submucous cleft hard palate, Hypodontia, High, narrow palate, Glossoptosis ORPHA:3201
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Muscular ventricular septal defect, Patent fo... OMIM:157800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Ventricular septal def... OMIM:617895
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylocostal Dysostosis 5
Pectus carinatum, Supernumerary ribs, Posterior rib fusion, Missing ribs OMIM:122600
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
1P36 Deletion Syndrome
Annular pancreas, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Abnormal cardiac ... ORPHA:1606
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal thorax morphology, Abnormality of the gallbladder, Hypo... ORPHA:280
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu... ORPHA:1836
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow chest, Short long bone, Femoral bowing, Hypoplasia of the thymus, Ventricular... OMIM:617022
Cog1-Cdg
Rhizomelia, Talipes equinovarus, Short long bone, Flat acetabular roof, Posterior rib gap, Pulmon... ORPHA:263508
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:1120
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Narrow chest, Halberd-shaped pelv... ORPHA:2635
Robinow Syndrome
Pulmonary valve atresia, Atrial septal defect, Tricuspid atresia, Mesomelic arm shortening, Missi... ORPHA:97360
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora... OMIM:620076
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:620269
Wolf-Hirschhorn Syndrome
Abnormal sternal ossification, Accessory spleen, Short hallux, Split hand, Ventricular septal def... OMIM:194190
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Clinodactyly of the 5th finger, Pectus carinatum, Arachnodactyly, ... OMIM:620568
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Narrow mouth, Microglossia OMIM:227270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Narrow chest, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Pe... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Nar... ORPHA:137888
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Kagami-Ogata Syndrome
Long clavicles, Hepatomegaly, Bell-shaped thorax, Thin ribs, Diastasis recti, Pulmonary arterial ... OMIM:608149
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri... ORPHA:2255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy ORPHA:54028
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips, Patent ductus arteriosus OMIM:241310
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Orofaciodigital Syndrome Iv
High palate, Tongue nodules, Cleft palate, Lobulated tongue, Accessory oral frenulum, Hamartoma o... OMIM:258860
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valve, Pulmonary insufficiency,... OMIM:265380
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of the great arteries, ... ORPHA:1780
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect, Abnormal rib morphology, Micromelia ORPHA:2772
Baller-Gerold Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Anomalous splenoportal venous system, Patellar ... OMIM:218600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Abnormal rib morphology, Abnormal cardi... ORPHA:93941
Tetraamelia Syndrome 2
Cleft palate, Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Congenital muscular torticollis, Abnormal rib morphology, Sprengel ... ORPHA:2345
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Glossoptosis, Pierre-Robin sequence, Open mouth, Thin upper lip vermilion OMIM:613604
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... ORPHA:93356
Polysyndactyly With Cardiac Malformation
Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cyst... OMIM:263630
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Low... ORPHA:3035
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Short 4th metacar... OMIM:618019
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of... OMIM:148050
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Patent ductus arteriosus, Microglossia ORPHA:1972
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Cardiomyopathy, Mesomelia, Abnorma... ORPHA:175
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Rhizomelia, Narrow chest, Severe limb shortening, Metaphyseal cupping, Hypoplastic pu... OMIM:151210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered finger, Tapered toe ORPHA:544488
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Narrow chest, Bowing of the long bones, Abnormal rib morp... ORPHA:436
Thanatophoric Dysplasia, Type I
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187600
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposition of the great arter... OMIM:612474
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Cleft palate, Delayed eruption of pri... OMIM:616367
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T... OMIM:211350
Zttk Syndrome
Aortic regurgitation, Rib fusion, Flexion contracture, Cervical ribs, Absent gallbladder, Atrial ... OMIM:617140
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Polycysti... OMIM:208500
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Microphthalmia, Syndromic 3
Missing ribs, Supernumerary ribs, Rib fusion, Ventricular septal defect, Hypogonadotropic hypogon... OMIM:206900
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal hip bone morphology, Missi... ORPHA:1488
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, H... OMIM:174300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Phaver Syndrome
Triphalangeal thumb, Abnormal rib morphology, Broad thumb, Camptodactyly of finger, Short thumb, ... ORPHA:2876
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy, Decreased fibular diameter, Limb unde... OMIM:616897
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Grant Syndrome
Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp... ORPHA:2097
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... OMIM:250420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Bifid ribs, Narrow chest, Rib fusion ORPHA:1394
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Internally rotated shoulders, Hepatic steatosis, Transposition of the great arteries... OMIM:619503
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab... ORPHA:1752
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly, Neutropenia ORPHA:2643
Diamond-Blackfan Anemia 12
Triphalangeal thumb, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocy... OMIM:615550
Aicardi Syndrome
Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblastoma, Hip dysplasia, Small hand ORPHA:50
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost... OMIM:187760
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Asymmetry of the thorax,... ORPHA:2911
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Femoral... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno... OMIM:307800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertens... ORPHA:2519
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Narrow chest, Short long bone, Cholestasis, Bilia... OMIM:620454
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Pectus excavatum, Abnormal rib morphology, Congenital ... ORPHA:2970
Dextrocardia
Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormal rib morphology, Congenital ... ORPHA:1666
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Epiphyseal dysplasi... ORPHA:583
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Bone marrow hypocellularity, Mesomelia, Thoracic h... OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Alagille Syndrome
Hypoplasia of the ulna, Hepatomegaly, Clinodactyly of the 5th finger, Spina bifida occulta, Hyper... ORPHA:52
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hypoglossia-Hypodactylia
Aglossia, Narrow mouth, Microglossia OMIM:103300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Atrial septal defect, Disproportionate shortening of the tibia, Postaxial ... OMIM:263520
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal wide... ORPHA:440354
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Hepatomegaly, Abnormal diaphysis morphology, Elevated circulating hepatic tra... ORPHA:73230
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Noncompaction... OMIM:607872
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, ... ORPHA:93317
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of finger, Metaphyseal cupping, ... OMIM:618853
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Atrial septal defect, Narrow chest, Short greater sciatic notch, ... ORPHA:1860
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cleft palate, Glossoptosis OMIM:618356
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Thickened ribs OMIM:252920
Short-Rib Thoracic Dysplasia 12
Short long bone, Short ribs, Splenomegaly, Short finger, Short thorax, Patent foramen ovale, Shor... OMIM:269860
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Protruding tongue, Bifid uvula, Cleft palate, Patent ductus arteriosus, Al... OMIM:612938
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion OMIM:614688
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Slender long bone, Hypoplasia of the musculature, Wide anteri... OMIM:278250
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Achondrogenesis, Type Ia
Hypoplasia of the radius, Stillbirth, Bell-shaped thorax, Talipes equinovarus, Severe limb shorte... OMIM:200600
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Bell-shaped thorax, Crumpled long bones, Thin ... OMIM:166210
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Abnormal rib morphology ORPHA:1703
Cofs Syndrome
Microphthalmia ORPHA:1466
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl... OMIM:618106
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Exaggerated median tongue furrow ORPHA:313892
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic... OMIM:252600
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Mucopolysaccharidosis, Type X
Genu valgum, Spatulate ribs, Aortic regurgitation, Broad clavicles, Irregular acetabular roof, Ao... OMIM:619698
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Aicardi Syndrome
Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblas... OMIM:304050
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... OMIM:108720
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Bulgi... OMIM:600081
Hurler Syndrome
Abnormal clavicle morphology, Hepatomegaly, Abnormal diaphysis morphology, Angina pectoris, Abnor... ORPHA:93473
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Pallister-Hall-Like Syndrome
Cleft palate, Median cleft upper lip, Microglossia OMIM:241800
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Arthrogryposis, Distal, Type 5D
Narrow mouth, Furrowed tongue, Cleft palate, Open mouth, Tongue atrophy OMIM:615065
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Broad clavicle... ORPHA:508542
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... ORPHA:2752
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Short thorax, Abnormal heart valve morphology, Pectu... ORPHA:582
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Bifid uvula, Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the tongue ORPHA:1790
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi... ORPHA:672
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi... OMIM:600785
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Mullegama-Klein-Martinez Syndrome
Polydactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Facial palsy, Apica... OMIM:301022
Mucopolysaccharidosis, Type Vi
Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Flared iliac wing, S... OMIM:253200
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Te... ORPHA:2847
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Carey-Fineman-Ziter Syndrome
Thin vermilion border, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence, Long philt... ORPHA:1358
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Genu valgum, Prominent sternum, Bilateral talipes equinovarus, Aortic valve stenosi... OMIM:253010
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Asymmetry ... OMIM:250250
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Facial palsy, Abn... ORPHA:3068
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Abnormal sternum morphology, Split ha... ORPHA:1335
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali... OMIM:616331
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts ORPHA:464329
Cronkhite-Canada Syndrome
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... ORPHA:2930
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Cleft palate, Lobulated tongue, Accessory oral frenulum... OMIM:252100
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Short foot, Talipes equinovarus ORPHA:93298
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal metacarpal morphology, Hammertoe, Abnormal finger morphology, ... ORPHA:2319
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Ankyloglossia, Enamel hypoplasia, Bilateral cleft lip, Thin ... OMIM:618874
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Pierpont Syndrome
Microphthalmia ORPHA:487825
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Abnormal rib morphology, Micromelia, Brachydactyly, Clubb... ORPHA:1318
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Cleft palate, Microglossia ORPHA:1307
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormality of the philtrum ORPHA:2759
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Frontometaphyseal Dysplasia 1
Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increased density of long bone... OMIM:305620
CantĂș Syndrome
Abnormal metaphysis morphology, Cardiomegaly, Narrow chest, Short hallux, Finger syndactyly, Abno... ORPHA:1517
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Hartsfield Syndrome
Microphthalmia, Encephalocele ORPHA:2117
Mulibrey Nanism
Dental crowding, Enamel hypoplasia, Microglossia, Hypodontia, Dental malocclusion OMIM:253250