Gene Summary

Name:
growth differentiation factor 11
Synonyms:
Bmp11

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail morphology Gdf11tm2b(EUCOMM)Hmgu HOM E12.5 0.00
preweaning lethality, complete penetrance Gdf11tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal craniofacial morphology Gdf11tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal facial morphology Gdf11tm2b(EUCOMM)Hmgu HOM E12.5 0.00
increased cardiac stroke volume Gdf11tm2b(EUCOMM)Hmgu HET Early adult 2.93×10-06
abnormal tail morphology Gdf11tm2b(EUCOMM)Hmgu HOM E18.5 0.00
cleft palate Gdf11tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal retina morphology Gdf11tm2b(EUCOMM)Hmgu HET   Early adult 4.83×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Ambiguous
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

16 Images

MicroCT E18.5

Embryo reconstruction

11 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gdf11 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 Gdf11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, Six lu... OMIM:619122

The table below shows human diseases predicted to be associated to Gdf11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Hypertrophy Of The Breast, Juvenile
Abnormal thorax morphology OMIM:113670
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect, Ureteral atre... OMIM:618845
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Rhizomelia, An... OMIM:617661
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Prune belly, Cervical ribs, Preaxial hand polydactyly, Ur... OMIM:601389
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Bifid sacrum, Renal hypoplas... ORPHA:1756
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ureter, Congenital diaphragmatic hernia, Abnormal gastrointestinal tract morph... ORPHA:1834
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck,... OMIM:118100
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Syngnathia
Cleft palate OMIM:119550
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Sprengel anomaly,... OMIM:601076
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Hydronephrosis,... OMIM:271520
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Trigonocephaly 1
Lumbar hemivertebrae, High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Metopic ... OMIM:190440
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Elbow dislocation, Phalangeal dislocation, Talipes equinovarus, Omphal... ORPHA:85174
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Renal agenesis, Abnormality of the vertebral column, Abnormal thorax m... ORPHA:294975
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Kyphosis, Hydronephrosis, Anal atresia, ... OMIM:620511
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, Six lu... OMIM:619122
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Cryptorchidism, Non-midline cleft of the upper lip, Tooth agenesis ORPHA:1074
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Congenital diaphragmati... ORPHA:887
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Radioulnar synostosis, Syndacty... OMIM:263750
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Missing ribs, Short neck, Hemivertebrae, Pe... ORPHA:52047
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal metaphysis morpho... ORPHA:93267
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Talipes equinovarus, Anal atresia, Paten... ORPHA:2970
3Q29 Microdeletion Syndrome
Pectus carinatum, Gastroesophageal reflux, Horseshoe kidney, Clinodactyly of the 5th finger, Six ... ORPHA:65286
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Delayed cranial suture... ORPHA:2484
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Butterfly vertebrae, Submucous cleft hard palate, Spre... OMIM:619227
Cloacal Exstrophy
Ureterocele, Abnormal tibia morphology, Renal hypoplasia/aplasia, Talipes equinovarus, Abnormal f... ORPHA:93929
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cerv... ORPHA:2345
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... ORPHA:2578
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Radioulnar synostosis, Elbow ankylosis, Abnormality of the upper urina... ORPHA:3266
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Abnormality of the ankle... ORPHA:96170
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Kyphosis, Gastroesophage... OMIM:609029
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Scoliosis, Cleft palate OMIM:619504
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Promin... OMIM:618494
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Short neck, Hypospadias, Sacral dimple ORPHA:2487
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Miller-Dieker Syndrome
Nephropathy, Clinodactyly of the 5th finger, Sacral dimple, Omphalocele ORPHA:531
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Pect... OMIM:616362
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Short neck, Anterior ... OMIM:228520
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death ... ORPHA:1354
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Oeis Complex
Talipes equinovarus, Duplicated collecting system, Anal atresia, Rectovaginal fistula, Vesicovagi... OMIM:258040
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camp... ORPHA:2311
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long penis, Scoliosis, Preaxial foot polydactyly, Inguinal herni... ORPHA:1988
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret... OMIM:143400
Distal Duplication 15Q
Camptodactyly of finger, Arachnodactyly, Short neck, Anal atresia, Omphalocele, Pectus excavatum,... ORPHA:1707
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Horseshoe kid... ORPHA:2319
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Cryptorchidism, Pectu... ORPHA:376
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Sprengel Deformity
Abnormal shoulder morphology, Cleft palate ORPHA:3181
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... OMIM:201000
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, High palate, Short neck, Ectopic anus, Abnormal rib morpho... ORPHA:1703
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Branchial cyst, Glomerulomegaly, Bilatera... ORPHA:2260
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Camptodact... ORPHA:2021
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ureter, Short neck, Hyperlordosis, Abnormal rib ... ORPHA:2522
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Neonatal death, Short neck, Short foot, Patent ductus arteriosus, Short toe... OMIM:269860
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Bowing of the long ... ORPHA:3035
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Gastroesophageal reflux, Intestinal malrotation, Overlapping toe, Overlapping finger... OMIM:618316
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, 11 pairs of ribs, Median cleft pala... OMIM:264480
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, High palate, Rocker ... OMIM:618393
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Anterior concavity of thoracic... OMIM:309350
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... OMIM:609625
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
C Syndrome
Ulnar deviation of finger, Fused sternal ossification centers, Toe syndactyly, Postaxial foot pol... OMIM:211750
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Talipes equinovarus, Short neck, Sprengel anomaly, Beaking of vertebral bodies, ... OMIM:213980
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,... ORPHA:2092
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Shashi-Pena Syndrome
Unilateral renal agenesis, Kyphosis, Cervical C2/C3 vertebral fusion, Short metacarpal, Scoliosis... OMIM:617190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Vesicourete... OMIM:619951
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hypoplastic scapulae, Congenital hip dislocation, Finger syndactyly, U... OMIM:308050
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, P... ORPHA:261344
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... OMIM:609052
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Triploidy
Narrow chest, Finger syndactyly, Intestinal malrotation, Short neck, Omphalocele, Macroglossia, M... ORPHA:3376
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Arachnodactyly, Tal... OMIM:300373
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... ORPHA:95699
Fryns Syndrome
Short distal phalanx of finger, Narrow chest, Multicystic kidney dysplasia, Gastroesophageal refl... ORPHA:2059
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus... OMIM:616300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Feingold Syndrome
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Hallux ... ORPHA:1305
Hypersulfaturia
Increased urinary sulfate, Costochondral pain, Nephrolithiasis OMIM:620372
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Undulate ribs, Missing ribs, Bow... ORPHA:1801
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Postaxial foot polydactyly, Arthrogryposis multiplex congenita, Overlapping fingers, ... OMIM:301056
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphrag... ORPHA:373
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor... ORPHA:1335
Jeune Syndrome
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho... ORPHA:474
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short r... OMIM:615503
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Protein-losing enteropathy, Small hand, ... OMIM:235510
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Delayed cranial suture closure, Os odontoideum, Hernia, Wormian bones,... OMIM:616603
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Talipes equinovar... OMIM:312870
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, 2... ORPHA:1692
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida OMIM:193500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus excavatum, Cleft palate,... OMIM:602196
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Caudal Regression Syndrome
Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Renal insufficiency,... ORPHA:3027
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Short neck, Anal atresia, Hypospadias, Duodenal atresia... OMIM:229850
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Sandal gap, Inguinal hernia, Clinodactyly of the 5th toe, Sho... OMIM:158170
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell... OMIM:156530
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Kyphoscoliosis, Limb undergrowth... OMIM:608149
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormal thorax morphology, Death in ... ORPHA:1318
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Clinodactyly, Abnormal sternum morphology, Overlapping toe, Inguinal h... OMIM:616737
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Lumba... OMIM:222600
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Cryptorchidism, Postaxial ... OMIM:615633
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Short neck, Ulnar deviation of the hand, Omphalocele, Metaphysea... OMIM:263210
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Congenital diaphragm... OMIM:154400
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Gastroesophageal reflux, Metap... OMIM:618188
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Omphalocele, Scoliosis, Short ... OMIM:601357
Burn-Mckeown Syndrome
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Inguinal hernia, 2-3 toe syndactyly, Cl... OMIM:608572
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Joint dislocation, Umbilical hernia, Inguinal hernia, Nephroblastoma, ... OMIM:617174
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r... ORPHA:254528
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Anteriorly placed anus, Ethmoidal encephalocele, Abnormal rib morp... ORPHA:280195
Opitz Gbbb Syndrome
Abnormality of the urinary system, Umbilical hernia, Ankyloglossia, Vesicoureteral reflux, Congen... ORPHA:2745
Mucopolysaccharidosis, Type Iva
Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae... OMIM:253000
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Hernia, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly, Clinod... ORPHA:3306
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Abdominal wall defect, Abnormal stomach morphology, Renal insufficienc... ORPHA:281090
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Rocker bottom foot, Abnormal anterior horn cell morphology, Neonatal death, Talip... OMIM:611890
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femoral head, Vesicoureter... OMIM:616854
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Lethal Congenital Contracture Syndrome 10
Narrow palate, Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic scoliosis,... OMIM:617022
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Macroglossia, Broad distal phalanx of finger, Hydroureter, Bilateral r... OMIM:619194
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Kyphosis, Short toe, Duodenal ... ORPHA:464311
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Fetal Encasement Syndrome
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Con... OMIM:613630
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Diastrophic Dysplasia
Ulnar deviation of finger, Joint dislocation, Abnormal clavicle morphology, Elbow dislocation, Ca... ORPHA:628
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Bifid distal phalanx of toe, Cutaneous finger syndactyly, Limited elbo... OMIM:618419
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr... OMIM:613390
Zttk Syndrome
Unilateral renal agenesis, Bifid uvula, Small hand, Kyphosis, Cervical ribs, Horseshoe kidney, Su... OMIM:617140
Auriculocondylar Syndrome 2B
Abnormality of the cervical spine, Long penis, Omphalocele OMIM:620458
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Hydroureter, Duodenal atres... OMIM:265380
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Arachnodactyly, Hypospadias, Duodenal atresia, Patent ductus arteriosus, Gastroes... ORPHA:464306
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Aganglionic m... ORPHA:85284
Schisis Association
Renal agenesis, Micromelia, Congenital diaphragmatic hernia, Encephalocele, Tracheoesophageal fis... ORPHA:63862
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Abnormal ha... ORPHA:371428
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal palate morphology, Abnormal r... ORPHA:1506
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Pectus excavatum OMIM:244200
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Renal agenesis, Absent vertebr... ORPHA:63259
Trisomy 13
High, narrow palate, Narrow chest, Kyphosis, Ectrodactyly, Abnormality of the ureter, Displacemen... ORPHA:3378
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy, Omphalocele OMIM:258320
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Scoliosis, Optic nerve dysplasia OMIM:246000
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Pectus excavatum, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Spinal canal stenosis, Long hallux, Cone-shaped epiphyses of the phala... OMIM:101800
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus carinatum, Long philtrum, Abnormal metacarpal morphology, Osteoarthritis, Pectus excavatum... ORPHA:166100
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... OMIM:167800
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge... OMIM:614576
Leopard Syndrome 1
Unilateral renal agenesis, Pectus carinatum, Limited elbow movement, Missing ribs, Cubitus valgus... OMIM:151100
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Constricting Bands, Congenital
Abnormal rib cage morphology, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palate,... OMIM:217100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses of the phalanges of the... OMIM:208500
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Short nec... OMIM:610832
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Arthritis, He... ORPHA:779
Robinow Syndrome, Autosomal Dominant 3
Mesomelia, Broad thumb, Kyphosis, Clinodactyly, Anteriorly placed anus, Vesicoureteral reflux, Sh... OMIM:616894
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Inguinal hernia, Hydrone... ORPHA:96121
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Clinod... OMIM:257920
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Thoracic hy... OMIM:613848
Atelosteogenesis Type I
Narrow chest, Joint dislocation, Thoracic hypoplasia, Short femur, Abnormal ossification involvin... ORPHA:1190
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Tracheoesophageal fistula, Intestinal a... ORPHA:93941
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Cleft palate OMIM:601355
Developmental And Epileptic Encephalopathy 89
Narrow chest, Death in childhood, Neonatal death, Talipes equinovarus, Limb undergrowth, Omphaloc... OMIM:619124
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Esophageal Atresia
Abnormal vertebral morphology, Barrett esophagus, Gastrointestinal carcinoma, Abnormality of the ... ORPHA:1199
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral re... OMIM:618454
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Short femoral neck, Proximal femora... OMIM:602271
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, High palate, Patent ductus arteriosus OMIM:609757
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Clinodactyly of the 5th finger, ... ORPHA:3082
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Anterior rib cuppi... OMIM:617941
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Abnormal rib morphology, Abnormal localiz... ORPHA:195
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Branchial fistula, Bran... OMIM:113650
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel morphology, Sprengel an... ORPHA:2180
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Short femoral neck, Knee dislocation, Genu valgum, Inguinal hernia, Hip cont... OMIM:618363
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydromyelia, Hip dislocation, Renal agen... OMIM:308205
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Dysphagia, S... OMIM:619751
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Spinal canal stenosis, Abnormal... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... OMIM:184250
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Joint dislocation, Micromelia, Horseshoe kidney, Cl... ORPHA:1308
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Renal agenesis, Abnormal form of the vertebral... ORPHA:3015
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Jacobsen Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Short neck, Duodena... ORPHA:2308
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Diaphanospondylodysostosis
Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Nephroblastomatosis, Hors... OMIM:608022
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal joint morpholog... ORPHA:93351
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Short neck, Trache... OMIM:614083
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... ORPHA:363444
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... ORPHA:2869
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... ORPHA:2470
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Clinodactyly of the 5th finger, Inguinal hernia, Brachydactyly, Genu varum,... OMIM:619451
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of th... ORPHA:235
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Hernia, Short neck, Abnormality of the kidney, Hypo... ORPHA:261318
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Absence Deformity Of Leg-Cataract Syndrome
Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, Anal atresia, Scoliosis ORPHA:2310
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Thor... OMIM:613091
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral meatus, Esop... ORPHA:95706
Codas Syndrome
Congenital hip dislocation, Hypoplasia of the odontoid process, Rectovaginal fistula, Gastroesoph... OMIM:600373
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Congenital ... ORPHA:261197
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Unilateral renal agenesis, Short distal phalanx of the thumb, Gas... ORPHA:221139
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Acrocephalopolydactylous Dysplasia
Micromelia, Hypoplastic colon, Short neck, Omphalocele, Postaxial hand polydactyly, Craniosynosto... OMIM:200995
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Broad hallux, Radioulnar synostosis, Enamel hypoplasia, Hypopla... OMIM:212780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Scolios... OMIM:259440
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Bullet-shaped m... OMIM:602535
3C Syndrome
High, narrow palate, Gastroesophageal reflux, Finger syndactyly, Intestinal malrotation, Inguinal... ORPHA:7
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Isolated Hemihyperplasia
Asymmetry of the thorax, Myelomeningocele, Inguinal hernia, Nephroblastoma, Scoliosis ORPHA:2128
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Encephalocele, Renal hypoplasia/aplasia, High palate, Anal atr... ORPHA:2052
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Inguinal hernia, Polydactyly, Abnormality of the abdominal wall, C... OMIM:247200
Axial Spondylometaphyseal Dysplasia
Abnormal metacarpal morphology, Flat acetabular roof, Thoracic hypoplasia, Aplasia/Hypoplasia of ... ORPHA:168549
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Diastasis recti, Inguinal hernia, Kyphos... ORPHA:254519
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Clinodactyly of the 5th finger, Inguinal hernia, Postaxi... ORPHA:457284
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Poland Syndrome
Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Con... ORPHA:2911
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodact... ORPHA:261337
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ... ORPHA:1120
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pectus carinatum, Microglossia, Narrow chest, Polysyndactyly of hallux, Postaxi... OMIM:263520
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, Omphalocele ORPHA:2143
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... ORPHA:1145
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Joint subluxation, Atrophic scars, Vesicoureteral reflux, Increased co... OMIM:606408
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Intestinal malro... ORPHA:93930
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... ORPHA:2097
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Radioulnar synostosis, Absent radius, Ana... OMIM:192350
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Micromelia, Flared metaphysis, Sho... OMIM:187601
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Narrow chest, Micromelia, Preaxial hand polydactyly, Absent or minimally ossifi... ORPHA:93271
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... ORPHA:1436
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Abnormality of the lymphatic system ORPHA:618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Micromelia, Horizontal ribs, Short ribs, Postaxial polydactyly... OMIM:617895
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Hemivertebrae, Anal atresia, Sacral dimple OMIM:619318
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic herni... ORPHA:1488
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Enlarged epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Distal ulna... OMIM:609616
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Missing ribs, Hemivertebrae, Anal atresia, Hypospadias, Cleft palate, Syndactyly OMIM:220210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Fractured radius, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diamet... OMIM:616897
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Heparan sulfate excretion in urine, Inguinal hernia, Ovoid thoracolumbar verteb... OMIM:252900
Trisomy 18
Narrow palate, Deviation of finger, Camptodactyly of finger, Congenital diaphragmatic hernia, Hyd... ORPHA:3380
Mucopolysaccharidosis, Type Ivb
Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equinovarus, Ovoid vertebral b... OMIM:253010
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly of finger, Abnormality of the ureter... ORPHA:3409
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Vertebral segment... ORPHA:96061
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Neonatal death, 2-3 toe syndactyly, Renal c... OMIM:236500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Clinodactyly, Abnormal sternum morphology, Overlapping toe, Inguinal h... ORPHA:487796
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... OMIM:618395
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Renal agenesis, Branchial cyst, Clinodactyly, Renal cyst, Sho... OMIM:615583
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Umbilical hernia, Inguinal hernia, Nephroblastoma, Pectus excavatum, Enlarged kidney, S... OMIM:618272
Acalvaria
Cleft palate, Spina bifida, Omphalocele, Postaxial hand polydactyly ORPHA:945
Achondrogenesis, Type Ib
Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified vertebral bodies, Inguin... OMIM:600972
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Omphalo... OMIM:603194
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... OMIM:613680
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Talipes equinovarus, Short n... ORPHA:93298
8Q24.3 Microdeletion Syndrome
Branchial cyst, Short neck, Short hallux, Abnormality of the kidney, Dysphagia, Patent ductus art... ORPHA:508488
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ... ORPHA:958
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Diabetic Embryopathy
Spinal dysraphism, Renal hypoplasia/aplasia, Hydronephrosis, Vertebral segmentation defect, Aplas... ORPHA:1926
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bi... ORPHA:64755
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m... OMIM:305600
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Abnorm... ORPHA:52
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Talipes equinovarus, Short neck, Inferiorly positioned umbilicus, Absent ra... OMIM:263650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Missing ribs, Arachnodac... ORPHA:2759
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Micromelia, Abnormal dental enamel mor... ORPHA:2616
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal cord compression, Spinal instability OMIM:251250
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Rachitic rosary, Metaphyseal cuppin... OMIM:241500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Ankle flexio... ORPHA:468631
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Chordee, Osteochondrosis, Hypos... ORPHA:268261
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Ovoid vertebr... OMIM:151210
Kniest Dysplasia
Enlarged metaphyses, Hypoplasia of the odontoid process, Abnormal joint morphology, Bell-shaped t...