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Gene: Marveld3 MGI:1920858

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Gene Summary

Name:
MARVEL (membrane-associating) domain containing 3
Synonyms:
Mrvldc3,  MARVD3,  1810006A16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased kidney weight Marveld3em1(IMPC)Ccpcz HOM Early adult 1.08×10-05
vertebral transformation Marveld3em1(IMPC)Ccpcz HOM Early adult 5.05×10-06
abnormal vertebral arch morphology Marveld3em1(IMPC)Ccpcz HOM Early adult 2.78×10-05
enlarged thymus Marveld3em1(IMPC)Ccpcz HOM Early adult 0.00
rib fusion Marveld3em1(IMPC)Ccpcz HOM Early adult 6.14×10-07
abnormal heart morphology Marveld3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Marveld3em1(IMPC)Ccpcz HOM   Early adult 4.25×10-05
abnormal thymus morphology Marveld3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal rib morphology Marveld3em1(IMPC)Ccpcz HOM Early adult 1.42×10-06
abnormal digit morphology Marveld3em1(IMPC)Ccpcz HOM   Early adult 6.85×10-06
abnormal spleen morphology Marveld3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retina blood vessel morphology Marveld3em1(IMPC)Ccpcz HOM   Early adult 3.58×10-05
enlarged heart Marveld3em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Marveld3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Marveld3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Talipes equinovarus, Apla... ORPHA:1988
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-co... OMIM:602271
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... ORPHA:1354
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Supernumerary nipple, Micromelia, Scoliosis, Pectus carin... ORPHA:64755
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Hypospadi... ORPHA:2311
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... OMIM:611702
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... ORPHA:474
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... OMIM:608406
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horiz... OMIM:615633
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Lymphangioma, Enlarged kidney, Abnormal humerus morphology, Panc... ORPHA:464329
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Micromelia, Abnormal form of the vertebral bod... ORPHA:1801
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Retinal dystrophy, Optic atrophy, Flared, irregular rib en... ORPHA:168549
Holt-Oram Syndrome
Abnormal clavicle morphology, Pectus excavatum, Anomalous pulmonary venous return, Absent thumb, ... ORPHA:392
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Short humerus, Abnormality of the vertebral colu... OMIM:314390
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of the ulna, Shor... OMIM:613091
Ethanolaminosis
Cardiomegaly OMIM:227150
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... ORPHA:2635
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Failure to thrive, Atrial septal defect, Multicystic kidney dysplasia, Abnormal aorti... ORPHA:261197
Diaphanospondylodysostosis
Vertebral segmentation defect, Talipes equinovarus, Unossified sacrum, Nephrogenic rest, Abnormal... OMIM:608022
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cyst... OMIM:615415
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Pallister-Hall Syndrome
Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Distal shortening of limbs, Rib f... OMIM:146510
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia, Abnormality of the spleen, Abnormal form of the ver... ORPHA:93941
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Sprenge... OMIM:134780
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Lumbar hyperl... OMIM:602557
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Meta... OMIM:187760
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... OMIM:271650
Mucopolysaccharidosis-Plus Syndrome
Pectus excavatum, Hepatomegaly, Short neck, Pectus carinatum, Enlarged kidney, Optic atrophy, Thr... OMIM:617303
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Radioulnar synostosis, A... ORPHA:2319
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Renal hypoplasia/aplasia, Abnormal vertebral s... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Platyspondyly, Micromelia, Synostosis of carpal bones, Upper limb undergrowth, Pectus ... ORPHA:93351
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Elbow disl... ORPHA:1507
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, R... ORPHA:2911
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defec... ORPHA:2970
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Hypoplasia of the thymus, ... OMIM:617022
Cantu Syndrome
Narrow chest, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Broad first metata... OMIM:239850
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Cryptorchidism, Small ha... OMIM:611209
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Talipes equinovarus... ORPHA:263508
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Sacral dimple, Rib fusion, Talipes equinovarus... ORPHA:280
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends ORPHA:168555
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... ORPHA:93267
Mucopolysaccharidosis, Type X
Nephrolithiasis, Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy... OMIM:619698
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... OMIM:608728
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Shor... OMIM:271520
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Eunuchoid habitus, Hypoplasia of penis, Hemivertebrae, Shor... ORPHA:2234
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... OMIM:184400
Diastrophic Dysplasia
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Camptodactyly of finger, ... ORPHA:628
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Metaphyseal cupping, Dysplastic sacrum, Short ribs, Small for gestational age, Ilia... OMIM:613320
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Hemivertebrae, Short neck, Large for gestational age, Bull's eye maculopathy, S... OMIM:213980
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... OMIM:148050
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Heparan sulfate excret... OMIM:252920
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal reticulocyte morphology, Abnor... ORPHA:2522
Microphthalmia, Syndromic 3
Optic nerve aplasia, Rib fusion, Butterfly vertebrae, Micropenis, Optic nerve hypoplasia, Hemiver... OMIM:206900
Robinow Syndrome
Tricuspid atresia, Hemivertebrae, Ventricular septal defect, Bifid distal phalanx of the thumb, A... ORPHA:97360
Endocrine-Cerebroosteodysplasia
Narrow chest, Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micropeni... OMIM:612651
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short... ORPHA:1703
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney disease, Hepatomegaly, Retinal... OMIM:615630
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Rib fusion, Ta... OMIM:265000
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphoc... OMIM:269920
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Hepatomegaly, Anterior beak... OMIM:253000
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... ORPHA:2990
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... OMIM:151210
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Renal agenesis, Short neck, Renal dysplasia, Abnormal rib morpholo... ORPHA:2578
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Kyphosis, Failure to thrive, Splenomegaly, Short neck, Genu valgum, Broad r... ORPHA:583
Spondylometaphyseal Dysplasia, Kozlowski Type
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... OMIM:184252
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Mucolipidosis Ii Alpha/Beta
Pectus excavatum, Hepatomegaly, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus defor... OMIM:252500
Melnick-Needles Syndrome
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Cone-shaped epiphyses of the p... ORPHA:2484
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... ORPHA:1120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Bro... ORPHA:3082
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Horseshoe kidney, Clinodactyl... ORPHA:3320
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Platy... OMIM:618395
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Multiple rib fractures, Short ribs, Short femur, Flared metaphysis, A... OMIM:616897
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening ORPHA:1513
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morpholog... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal sclerosis, Proximal femoral epiphysi... OMIM:260400
Aicardi Syndrome
Bifid ribs, Rib fusion, Abnormality of retinal pigmentation, Butterfly vertebrae, Hepatoblastoma,... ORPHA:50
Cantú Syndrome
Narrow chest, Short distal phalanx of finger, Finger syndactyly, Broad hallux phalanx, Short neck... ORPHA:1517
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Coxa vara, Prominent sternum, Thin ribs, Flared iliac wing, Metaphyseal widening, ... OMIM:300232
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Talipes equinovarus, Hypertrophy of the urinary bladder, Autoimmune thrombocyto... OMIM:601389
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Hypoplasia of the radius, Anomalous splenoportal venous system, Ab... OMIM:218600
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... ORPHA:2475
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, 11 pairs of ribs, Optic atrophy, Spinal canal stenosis, Rib f... ORPHA:1606
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly... OMIM:230500
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia, Brachydact... ORPHA:1318
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Short neck, Heparan sulfate excretion in urine, Pectus carinatum, Enlarged k... ORPHA:505248
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislocation, Enlarge... OMIM:306955
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Short neck, Platyspondyly, Scoliosis, Pectus carinatum, Hyperlor... ORPHA:582
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Sho... ORPHA:1505
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodie... ORPHA:85167
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jau... ORPHA:858
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Ventricular septal defect, Large for gestational age, Abnormal femoral torsion, ... ORPHA:500095
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Short neck, A... ORPHA:1834
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Abnormally ossified vertebrae, Short neck, Micr... ORPHA:175
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... ORPHA:195
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Prominent ste... OMIM:253010
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneration, Hypoplasia of the ulna,... OMIM:208500
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... ORPHA:66637
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... OMIM:269250
Fucosidosis
Glycopeptiduria, Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Oligosacchariduria, ... OMIM:230000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Retinal degeneration, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Hepatic cy... OMIM:613819
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Hemivertebrae, Block vertebrae, Reti... OMIM:304050
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Supernumerary ribs, Vertebral fusion, Vertebral segmentation defect OMIM:221950
Wolf-Hirschhorn Syndrome
Radioulnar synostosis, Ventricular septal defect, Single transverse palmar crease, Biliary tract ... OMIM:194190
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Atrial septal defect, Abnormal retinal vascular morphology,... ORPHA:3378
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... OMIM:228520
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Short lower limbs, Beaded... OMIM:259440
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Failure to thrive, Clinodactyly of... ORPHA:52
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly, Macroorchidism OMIM:300886
Phaver Syndrome
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... ORPHA:2876
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Retinal dystrophy, Ventricular septal defect, Short long bone, S... OMIM:263520
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Rod-cone dystrophy, Short ribs, Short humerus, Short neck, Short femoral neck, S... OMIM:610319
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R... ORPHA:2616
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Rod-cone dystrophy, Sp... OMIM:252930
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Un... OMIM:118100
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... OMIM:618019
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... OMIM:215140
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Failure to thrive, Atrial septal defect, Muscular ventricular sept... OMIM:157800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Short long bone, Thoracic hypoplasia, M... ORPHA:93352
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Hypoplasia of penis, Micromelia, Abnormal rib morphology, Ventricular sep... ORPHA:2772
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of ... ORPHA:3258
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Hepatomegaly, Splenomegaly, Scoliosis, Ovoid thoracolumbar vertebrae, Heparan sul... OMIM:252900
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal cardiac septum morphology, Finger syndactyly, Hypoplasia ... ORPHA:887
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... OMIM:300863
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Chorioretinal coloboma OMIM:300864
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Large for gestational ag... ORPHA:544488
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Pallister-Hall Syndrome
Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Large for gestational ag... ORPHA:672
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Atrial septal defect, Talipes equinovarus, Short ribs... ORPHA:2347
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... OMIM:256550
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Scoliosis, Abnormality of the lymphatic system, Ovarian serous ... ORPHA:276280
Sillence Syndrome
Platyspondyly, Large tarsal bones, Slender build, Back pain, Chess-pawn distal phalanges, Aplasia... ORPHA:3168
Zttk Syndrome
Rib fusion, Kyphosis, Failure to thrive, Atrial septal defect, Small hand, Hemivertebrae, Unilate... OMIM:617140
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Epiphyseal stippling of toe phalanges, Cervical ver... ORPHA:79345
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Vitreous floaters, Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:85447
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Hepatomegaly, Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, H... OMIM:608836
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Micromelia, Brachydactyly, Abnorma... ORPHA:2021
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Hypospadias, Abnormal clavicle morphology, Tetralogy of Fallot ORPHA:276422
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Hepatomegaly, Splenomegaly, Retinopathy, Cam... ORPHA:93473
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Short neck, Micromelia, Abnormal rib morphology, Short thorax,... ORPHA:93298
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Short neck, Micromelia, Cystic renal dysplasia, Enlarged kidne... OMIM:200995
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micr... OMIM:617895
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Retinal degeneration, Soft tissue swelling of interphalangeal joints, Sho... OMIM:252600
Becker Nevus Syndrome
Pectus excavatum, Hemivertebrae, Scoliosis, Unilateral breast hypoplasia, Cervical ribs OMIM:604919
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Short neck, Hypoplastic ... OMIM:114620
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Atrial septal defect, Talip... OMIM:245190
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Short sternum, Hepatomegaly, Hepatoblastoma, 2-3 finger syndactyly, Pectus cari... OMIM:312870
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Cardiomegaly OMIM:618654
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Atrial septal defect, Talipes equinovarus, Short ribs, Cone-shape... OMIM:225500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral... ORPHA:280195
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Eunuchoid habitus, Thin ribs, Arachnodactyly, Thin metatarsal cortices, Increas... ORPHA:2463
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column,... OMIM:601076
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Neutropenia ORPHA:2643
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Atrial septal defect, Supernumerary nipple, Short ribs, Micropenis, ... ORPHA:2519
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Genu valgum, Partial fusion of tarsals, Bowing of the l... OMIM:305620
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Renal hypoplasia/a... ORPHA:958
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Thin ribs, Small for gestational age, Platyspondyly, Crumpled long bones, Bell-sha... OMIM:166210
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Ureteral obstruction, Bowing of the long bones, Elbow disloca... ORPHA:90652
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Ventri... ORPHA:1488
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... ORPHA:1486
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Thin ribs, Long clavicles, Splenomegaly, Pulm... OMIM:608149
Hypophosphatasia
Narrow chest, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphysis morphology, ... ORPHA:436
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... OMIM:200600
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Optic disc coloboma, Ventricular septal defect, Optic atrophy, Optic disc pallo... OMIM:607872
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Hepatomegaly, Thin ribs, Triangular shaped distal p... ORPHA:73230
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly, Cardiomegaly OMIM:613576
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, Micromelia, Ab... ORPHA:2145
Dextrocardia
Abnormality of the ureter, Congenital hip dislocation, Abnormality of the spleen, Abnormal renal ... ORPHA:1666
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Optic atrophy, Papilledema, Diaphyseal sclerosis OMIM:122860
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Holzgreve Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Hand polydactyly, Abnormally ossified vert... ORPHA:2167
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Hypoplasia of the radius, Renal agenesis, Short neck, Micromelia, Brach... ORPHA:3015
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Metacarpophalangeal joint hyperextensibility, Short neck, 11 pairs of ribs, Platyspondyly, Pectus... OMIM:245600
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, Hypoplasia of the radius, Hemivertebrae, Abnormality of th... OMIM:200980
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Short 5th finger, Pectus ... OMIM:612921
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... OMIM:271640
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Failure to thrive, Short ribs, Postaxial polydactyly, Pancreatic ... OMIM:615503
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Short neck, Micromelia, Short thorax, Short foot, Short palm ORPHA:93299
Dysosteosclerosis
Narrow chest, Irregular vertebral endplates, Abnormal metaphyseal trabeculation, Short sternum, H... OMIM:224300
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem... ORPHA:251004
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Patent urachus, Unilateral cryptorchidism, Hepatopulm... OMIM:618280
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Short long bone, Multiple rib fractures, Small for gestational age, Platyspondyly, ... OMIM:616229
Mosaic Trisomy 9
Abnormal liver lobulation, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Alg9-Cdg
Hepatomegaly, Short neck, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, ... ORPHA:79328
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Renpenning Syndrome
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Cachexia, Hypospadias, Abnorm... ORPHA:3242
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Bowing... ORPHA:2097
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Horseshoe kidney,... OMIM:609945
Gracile Bone Dysplasia
Failure to thrive, Thin ribs, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hy... OMIM:602361
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Short neck, Ventricular septal defect, Short long bone, Short ribs, Splenomegaly, B... OMIM:269860
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... ORPHA:93317
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizo... ORPHA:163966
Cartilage-Hair Hypoplasia
Prominent sternum, Femoral bowing, Macrocytic anemia, Scoliosis, Anemia, Hypoplasia of the odonto... OMIM:250250
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Pancreatic hypoplasia, Ven... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:617713
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Mucopolysaccharidosis, Type Vi
Prominent sternum, Hepatomegaly, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodie... OMIM:253200
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs, Situs inversus totalis ORPHA:66630
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Pigmentary retinopathy, Single transverse palm... OMIM:253250
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... OMIM:180080
Attrv122I Amyloidosis
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Le... ORPHA:85451
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Congenital hip dislocation, Short neck, Ventricul... ORPHA:373
Steinfeld Syndrome
Unilateral renal dysplasia, Hypoplasia of the radius, Retinal coloboma, Abnormality of the verteb... OMIM:184705
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Basal Cell Nevus Syndrome
Hemivertebrae, Down-sloping shoulders, Vertebral wedging, Ovarian carcinoma, Sprengel anomaly, Sh... OMIM:109400
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Thin ribs, Brachydactyly, Hydronephrosis, Vesicoureteral reflux OMIM:618265
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Retinopathy, Hematuria, Hemolytic anemi... OMIM:603903
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Unilateral renal agenesis, Abnormality of the vertebral column, Scol... OMIM:308205
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Absent thumb, Arachnodact... ORPHA:500150
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Abnormal renal physiology, Car... OMIM:266500
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... OMIM:211350
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... OMIM:271665
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Deep palmar crease, ... ORPHA:96061
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Cherr... ORPHA:79255
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Aortic valve stenosis, Mitral valve prolapse, Abnormal thumb morphology, Abnormal... ORPHA:324410
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Sho... OMIM:251230
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Trisomy 1Q
Congenital megaureter, Arachnodactyly, Camptodactyly of finger, Multicystic kidney dysplasia, Abn... ORPHA:261344
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... ORPHA:93324
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... ORPHA:1452
Opsismodysplasia
Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Renal phosp... OMIM:258480
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Congenital hypoparathyroidism, Thin clavicles, Small hand, Slender lon... OMIM:244460
Vater/Vacterl Association
Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Patent urachus, Scoli... OMIM:192350
Lymphoid Interstitial Pneumonia
Failure to thrive, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney, Weight loss, Clubbing ORPHA:79128
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, ... OMIM:212140
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Distal upper limb muscle weakness, Spinal rigidity, Right ventricular hypertrophy, Limited elbow ... ORPHA:268
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... OMIM:600002
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger OMIM:312150
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hemivertebrae, Reduced number of intrahepatic bile ducts, Chol... OMIM:118450
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification... OMIM:241530
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
H Syndrome
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Campto... ORPHA:168569
Osteogenesis Imperfecta, Type X
Narrow chest, Nephrolithiasis, Thin ribs, Platyspondyly, Micromelia, Scoliosis, Genu valgum, Broa... OMIM:613848
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:264700
Myhre Syndrome
Cone-shaped epiphysis, Short neck, Platyspondyly, Ventricular septal defect, Broad ribs, Short lo... OMIM:139210
Townes-Brocks Syndrome
Abnormal cardiac septum morphology, Ulnar deviation of finger, Absent toe, Clinodactyly of the 5t... ORPHA:857
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bones, Rocker bottom f... ORPHA:95699
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow dislocation, Absent ste... OMIM:224690
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Oligosacchariduria, Cardiomegaly ORPHA:3137
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Abnormal rib morphology, Optic atrop... ORPHA:3301
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Atrial septal defect, Methylmalonic aciduria, Homocystinuria, Bell-shaped thor... OMIM:614857
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage, Broad ri... OMIM:612852
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Pectus carinat... ORPHA:3068
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Ventricular septal defect, Patent forame... OMIM:618652
Van Den Ende-Gupta Syndrome
Pectus excavatum, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Sac... OMIM:600920
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia OMIM:152800
Ogden Syndrome
Hydrocele testis, Pectus excavatum, Congenital hip dislocation, Short neck, Enlarged kidney, Vent... OMIM:300855
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Tyrosinemia, Type I
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urin... OMIM:276700
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Bowing of th... ORPHA:2050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Short ribs, Elbow flexion contracture, Cupped ribs, Cryptorchidism, Interphalange... ORPHA:1145
Xylt1-Cdg
Short clavicles, Hepatomegaly, Flared metaphysis, Short femoral neck, Truncal obesity, Broad thum... ORPHA:370930
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hepatomegaly, Short fourth metata... OMIM:618143
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger OMIM:253290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... OMIM:276820
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Micromelia, Biconcave vertebra... ORPHA:666
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Horizont... OMIM:102700
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Proteinuria, Acute kidney injury, Anemi... OMIM:618886
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Fucosidosis
Kyphosis, Failure to thrive, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of t... ORPHA:349
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cardiomyopat... OMIM:235200
Mogs-Cdg
Hydrocele testis, Thoracic scoliosis, Atrial septal defect, Hepatomegaly, Left ventricular hypert... ORPHA:79330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatomegaly, Hepatoblastoma, ... ORPHA:96334
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal clavicle morphology, Hepatomegaly, Retinal degeneratio... ORPHA:581
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Pectu... OMIM:114290
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, P... ORPHA:363705
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Short neck, Single ... OMIM:269150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Hepatomegaly, Splenomegaly, Short ribs, Atrioventricular canal def... OMIM:617088
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited el... OMIM:604922
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Talipes equinovarus, Arachnodactyly, Camptodactyly of finger, Scolios... ORPHA:2215
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Ventricular septal defect, Large for gestati... ORPHA:254534
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Epiphyseal dysplasia, Thoracic scoliosis, Hepatomegaly, Hypoplastic vertebral bod... OMIM:252940
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Neph... OMIM:130650
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Abnormality of the ureter, Short neck, Micromeli... ORPHA:800
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... ORPHA:465508
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Retinopathy, Short neck, Abnormality of the vertebral column, Polydac... ORPHA:77301
Sclerosteosis 1
Cortically dense long tubular bones, Papilledema, 2-3 finger syndactyly, Syndactyly, Broad clavic... OMIM:269500
X-Linked Hypophosphatemia
Renal phosphate wasting, Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wi... ORPHA:89936
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Short tubular bones of the hand, Vertebral arch anomaly, Broad ribs, Overtubu... ORPHA:85184
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Avas... ORPHA:247691
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Sirenomelia, Long penis, Retinal nonattac... ORPHA:744
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Scoliosis, Slender long bone, Pro... OMIM:259420
8P11.2 Deletion Syndrome
Atrial septal defect, Talipes equinovarus, Spherocytosis, Splenomegaly, Hypoplasia of penis, Reti... ORPHA:251066
Myhre Syndrome
Abnormal cardiac septum morphology, Large iliac wing, Abnormal penis morphology, Hypospadias, Abn... ORPHA:2588
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis, ... ORPHA:99931
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... ORPHA:116
Aspergillosis
Abnormality of the kidney, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morpho... ORPHA:1163
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... OMIM:117650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... OMIM:617925
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Bladder diverticulum, Shor... OMIM:304150
Familial Osteodysplasia, Anderson Type
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... ORPHA:2769
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Ventricular septal defect... ORPHA:3472
Hsd10 Disease, Infantile Type
Retinal degeneration, Rod-cone dystrophy, Abnormal concentration of acylcarnitine in the urine, A... ORPHA:391428
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Short neck, Ulnar deviation of finger, Optic atrophy, Ventricular ... ORPHA:818
Weill-Marchesani Syndrome 1
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... OMIM:277600
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compression fracture, Bowing of ... OMIM:617952
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Thin ribs, Femoral retroversion, Femoral bowing, Barrel-s... OMIM:610915
Cranioectodermal Dysplasia 2
Pectus excavatum, Hepatomegaly, Short neck, Cholestasis, Rhizomelia, Bile duct proliferation, Por... OMIM:613610
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Micropenis, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Crypto... ORPHA:456328
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Talipes equinovarus, Joint contracture of the hand, Thi... OMIM:182212
Antley-Bixler Syndrome
Narrow chest, Elbow ankylosis, Arachnodactyly, Femoral bowing, Camptodactyly of finger, Abnormal ... ORPHA:83
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Pectus excavatum, Hepatomegaly, Micro... OMIM:618278
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Optic atrophy, Increased si... ORPHA:217085
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Thymus hyperplasia, Polyc... ORPHA:2969
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Failure to thrive, Hepatomegaly, Pancreatitis, Abnormal myeloid leukocyte morpho... ORPHA:79259
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Heparan sulfate excretion in urine, Optic atrophy, Increased si... ORPHA:217093
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypoplasia of the... OMIM:266910
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bell-shaped thorax, Hypopl... OMIM:616300
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Single transverse palmar crease, Contractu... OMIM:601559
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormal rib morphology, Split hand, Cryptorchidism, Finger syndactyly, Toe syndactyly ORPHA:1300
Pagod Syndrome
Abnormal clavicle morphology, Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidne... ORPHA:991
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Elevated circulating gr... ORPHA:249
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatic st... ORPHA:42
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypopl... ORPHA:3404
Pyknoachondrogenesis
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Micromelia, Hypop... ORPHA:3003
Fryns Syndrome
Prominent fingertip pads, Short neck, Ventricular septal defect, Single transverse palmar crease,... OMIM:229850
Craniometadiaphyseal Dysplasia
Flared metaphysis, Scoliosis, Genu varum, Genu valgum, Broad ribs, Cubitus valgus, Broad long bon... OMIM:269300
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Metaphyseal dysplasia, Increased intervertebral space, Platyspondyly, Broad fem... OMIM:619727
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, ... OMIM:608013
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Micropenis, Small hand, Short neck, Broad femoral neck, Spina bifida ... ORPHA:488434
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... OMIM:201475
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Broad metacarpals, Hepatomegaly, Talipes equinovarus, Hepatosplenomegaly, Tapered... OMIM:301066
Trisomy 18
Abnormality of retinal pigmentation, Atrial septal defect, Abnormal hip bone morphology, Cachexia... ORPHA:3380
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Pectus excavatum, Metacarpo... ORPHA:97297
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Talipe... OMIM:300373
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... ORPHA:158687
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Multiple rib fractures, Optic atrophy, Optic nerve compression, Anemi... OMIM:612301
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Abnormal rib morph... ORPHA:667
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... OMIM:610682
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Amyloidosis, Hereditary, Transthyretin-Related
Amyloid deposition in the vitreous humor, Cardiomyopathy, Cardiomegaly, Urinary incontinence OMIM:105210
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Thin ribs, Abnormal renal corticomedullary different... OMIM:617397
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dica... ORPHA:228308
Weill-Marchesani Syndrome 2
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... OMIM:608328
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent sternum, Coat hanger ... ORPHA:254528
Osteopetrosis With Renal Tubular Acidosis
Secondary hyperparathyroidism, Failure to thrive, Nephrolithiasis, Pectus excavatum, Hepatomegaly... ORPHA:2785
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... ORPHA:255249
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomegaly, Met... OMIM:617941
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Micropenis, Hypospadias, Unilateral cryptorchidism, Glandular hypospadias, Penile hypo... OMIM:300219
Charge Syndrome
Hemivertebrae, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Horsesh... OMIM:214800
Constricting Bands, Congenital
Talipes equinovarus, Abnormal rib cage morphology, Syndactyly, Scoliosis, Bladder exstrophy, Ecto... OMIM:217100
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Chordee, Proximal symphalangism of hands, Hyperextensibility of the finger joi... OMIM:151050
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Overlapping toe, Failure to thrive, Hepatomegaly, Thin ribs, Long clavicles, Arac... ORPHA:83617
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Coccidioidomycosis
Pancreatitis, Abnormality of the kidney, Eosinophilia, Peritonitis, Abnormality of the spleen, Me... ORPHA:228123
Leprechaunism
Failure to thrive, Decreased body weight, Hepatomegaly, Hypercalciuria, Enlarged kidney, Long pen... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Left ventricular noncompaction cardiomyopathy, Synostosis of the proximal phalanx ... OMIM:300967
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Hepatoblastoma, Streak ovary, Short 1st metacarpal, Abnormality of ... ORPHA:798
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Large for gestational age, Proximal muscle weakness in upper limbs, Cryptorchidism, Ur... ORPHA:169189
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Pectus excavatum, Hepatomegaly, Thin ribs, Elevated hemoglobin A1c, L... OMIM:619127
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Abetalipoproteinemia
Failure to thrive, Kyphoscoliosis, Abnormality of retinal pigmentation, Hepatomegaly, Talipes equ... ORPHA:14
Severe Congenital Nemaline Myopathy
Thin ribs, Adducted thumb, Micropenis, Hypospadias, Abnormal thorax morphology ORPHA:171430
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Thin ribs, Small for gestational age OMIM:615368
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Pectus excavatum, Down-sloping shoulders, Rad... ORPHA:904
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Decreased body weight, Thin ribs OMIM:614833
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... OMIM:619259
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hepatic calcification, Hyperphosphaturia, ... ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Flexion contracture of finger, Hepatomegaly, Splenomegaly, Camptodactyly of fi... OMIM:256040
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Thymus hyperplasia, Talipes equinovarus OMIM:619036
Beck-Fahrner Syndrome
Ventricular septal defect, Hip dysplasia, Cardiomegaly OMIM:618798
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Pectus excavatum, Cortical thickening of long bone diaphyses, Oligosacchariduria,... ORPHA:309282
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Kypho... OMIM:225400
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Ventricular septal defect, H... OMIM:614921
Charge Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Micropenis, Hemivertebrae, Ab... ORPHA:138
Complete Atrioventricular Septal Defect
Failure to thrive, Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Disp... ORPHA:1329
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal sternum morphology, Arachnodactyly, Scoliosis, Cardiomegaly ORPHA:91387
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Bell-s... ORPHA:1393
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Small for gestational age, Abnormality... OMIM:234100
Kagami-Ogata Syndrome
Kyphoscoliosis, Hepatoblastoma, Coat hanger sign of ribs, Short neck, Bell-shaped thorax, Large f... ORPHA:254519
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Right atrial enlargement, Thin ribs, Scoliosis, Limited elbow movement, Progre... OMIM:614008
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Left atrial enla... ORPHA:57777
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... ORPHA:3384
Monosomy 9P
Hypospadias, Short neck, Bilateral single transverse palmar creases, Abnormality of the vertebral... ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hematuria, Genu valgum, Abnormal epiphysis morphology, Proteinuria, Chorioretinal ... ORPHA:534
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Ear-Patella-Short Stature Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Hypoplasia of penis, Hypospadias, Camptodactyl... ORPHA:2554
Singleton-Merten Syndrome 1
Aortic valve calcification, Expanded metacarpals with widened medullary cavities, Aortic valve st... OMIM:182250
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic c... ORPHA:308552
Fetal Akinesia Deformation Sequence 1
Ulnar deviation of the hand, Talipes equinovarus, Elbow ankylosis, Thin ribs, Small for gestation... OMIM:208150
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormal hip bone morphology, Abnormal renal tubule morphology, Ca... ORPHA:2907
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Diffuse pa... OMIM:601214
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Ventric... OMIM:619991
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Urethral stricture, Abnormal rib morphology, Neoplasm of the urethra, Ph... ORPHA:2908
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740