Gene Summary

Name:
metastasis associated 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Mta1tm1a(EUCOMM)Wtsi HOM Early adult 3.17×10-05
abnormal skin pigmentation Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 5.63×10-05
increased total body fat amount Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.20×10-05
abnormal rib morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 2.03×10-05
abnormal tail morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 4.86×10-05
decreased body weight Mta1tm1a(EUCOMM)Wtsi HET Early adult 5.42×10-08
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
decreased circulating LDL cholesterol level Mta1tm1a(EUCOMM)Wtsi HOM Early adult 1.74×10-07
decreased body weight Mta1tm1a(EUCOMM)Wtsi HOM Early adult 4.49×10-06
decreased sacral vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
absent pinna reflex Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 4.91×10-05
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HET Early adult 6.57×10-07
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 5.77×10-06
decreased caudal vertebrae number Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.65×10-06
decreased mean corpuscular volume Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.80×10-05
abnormal behavior Mta1tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-10
abnormal bone mineralization Mta1tm1a(EUCOMM)Wtsi HOM Early adult 8.38×10-06
abnormal skin morphology Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 5.63×10-05
decreased lumbar vertebrae number Mta1tm1a(EUCOMM)Wtsi HET   Early adult 9.14×10-06
increased thermal nociceptive threshold Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 7.67×10-05
trunk curl Mta1tm1a(EUCOMM)Wtsi HOM   Early adult 1.30×10-05

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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.

Legacy Phenotype Associated Images

View all 206 images

Human diseases caused by Mta1 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 Mta1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Coloboma Of Macula
Macular coloboma OMIM:120300
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum, Radioulnar synostosis ORPHA:3268
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Generalized dystonia, Arm dystonia, Abnormal... OMIM:619565
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of f... ORPHA:2635
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Kyphosis, Oromandibular dystonia, Multiple joint contractures, Blepharospasm, Scolio... OMIM:128100
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome... OMIM:614857
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypers... OMIM:610539
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial o... OMIM:259440
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Joint stiffness, Premature graying of hair, Pectus excavatum... ORPHA:1979
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morpholog... ORPHA:93160
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Metatropic Dysplasia
Narrow chest, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Short ribs, ... OMIM:156530
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... OMIM:611209
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... OMIM:600081
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Hypermelanotic macule, Lipoatrophy, Scoliosis, Spina bifi... ORPHA:64755
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, O... ORPHA:93267
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... ORPHA:2522
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Scol... OMIM:187760
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies, Abnormal rib... ORPHA:2234
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... ORPHA:168549
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Femoral hernia, Short thorax, Umbilical hernia... ORPHA:93298
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Inguinal hernia, Short... OMIM:271520
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Scoliosis, ... ORPHA:2169
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Increased susceptibility to fractures, Abnormal posturing OMIM:304700
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Inguinal hernia, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs,... OMIM:619122
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Hypercalcemia, Anem... ORPHA:436
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification... OMIM:241530
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... OMIM:264700
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Congenital diaphragmatic hernia, Inguinal he... ORPHA:2311
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Choreoathetosis, Vertebral fusion OMIM:221950
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Choreoathetosis, Abnormality of skin pigmentation, Hypermelanotic macule OMIM:609056
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Small for gestational age, Platyspondyly, Bell-shaped thorax, Tho... OMIM:166210
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptoda... ORPHA:628
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Pigmentary retinopathy, Increased susceptibility to fractures, Weight loss, Abnorma... ORPHA:216866
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Femoral hernia, Short thor... ORPHA:93299
Infantile Systemic Hyalinosis
Failure to thrive, Joint stiffness, Recurrent fractures, Steatorrhea, Osteopenia, Camptodactyly o... ORPHA:2176
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hyp... ORPHA:289157
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Platyspondyly, Short neck, Scolios... ORPHA:582
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... ORPHA:93351
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophilia, ... OMIM:612852
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Hypophosphatemia, Increased circula... ORPHA:249
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... OMIM:616229
Sandifer Syndrome
Torticollis, Hiatus hernia, Decreased cervical spine mobility, Anemia, Abnormal posturing ORPHA:71272
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofaci... OMIM:122860
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Shwachman-Diamond Syndrome
Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Pancytopenia, Leukemia, Increased me... ORPHA:811
Waardenburg Syndrome, Type 1
Sprengel anomaly, Blue irides, Supernumerary vertebrae, Partial albinism, White eyebrow, White ey... OMIM:193500
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnorma... ORPHA:2097
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia, Abnormality of the spleen, Abnormal form of the vertebral bodies ORPHA:93941
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Hiatus hernia, Inguinal hernia, Osteopenia, Scoliosis, Osteomalacia, Osteoporosi... ORPHA:1901
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Mildly elevated creatine kinase, Elbow flexion contr... ORPHA:1145
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Camptodactyly of finger, Scoliosis... ORPHA:1488
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Inguinal hernia, Scoliosis, Radiouln... ORPHA:1988
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, White forelock, Joint hyperflexi... ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis,... OMIM:184250
Mucopolysaccharidosis, Type Iva
Kyphosis, Prominent sternum, Inguinal hernia, Anterior beaking of lumbar vertebrae, Platyspondyly... OMIM:253000
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, ... OMIM:277440
Diamond-Blackfan Anemia 7
Sprengel anomaly, Increased mean corpuscular volume, Osteopenia, Scoliosis, Osteoporosis, Macrocy... OMIM:612562
3Q29 Microdeletion Syndrome
Failure to thrive, Pectus excavatum, Pectus carinatum, Six lumbar vertebrae, Abnormality of skin ... ORPHA:65286
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Synostosis of carpal bones, Abnormal rib ... ORPHA:1836
Huntington Disease-Like 1
Weight loss, Abnormal shoulder morphology, Abnormal posturing ORPHA:157941
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... OMIM:615633
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... OMIM:151210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Shwachman-Diamond Syndrome 1
Narrow chest, Failure to thrive, Neutropenia, Small for gestational age, Persistence of hemoglobi... OMIM:260400
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Scoliosis, Abnormal rib morphology, Anisospondyly, Osteolytic defe... ORPHA:2484
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Thin ribs, Short neck, Platyspondyly, Scoliosis, Joint laxity, Obe... OMIM:618395
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... OMIM:612561
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Multiple rib fractures, Short ribs, Small for gestational age, Osteopenia, P... OMIM:616897
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Decreased LDL cho... OMIM:618156
Mucopolysaccharidosis Type 6
Kyphosis, Failure to thrive, Joint stiffness, Splenomegaly, Short neck, Broad ribs, Ovoid vertebr... ORPHA:583
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Failure to thrive, Atlantoaxial instability, Horizontal inferior bor... ORPHA:239
Schneckenbecken Dysplasia
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... OMIM:269250
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Scoliosis, Small for gestational age OMIM:610883
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Inguinal hernia, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc... OMIM:252900
X-Linked Hypophosphatemia
Limitation of joint mobility, Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone minera... ORPHA:89936
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Thin bony cortex... OMIM:617952
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... ORPHA:2759
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... ORPHA:474
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Osteogenesis Imperfecta, Type Iii
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Decreased calvarial ossifica... OMIM:259420
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Increased subcutaneous tr... ORPHA:2457
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... ORPHA:2021
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Mucopolysaccharidosis, Type Ivb
Kyphosis, Prominent sternum, Inguinal hernia, Platyspondyly, Scoliosis, Osteoporosis, Grayish ena... OMIM:253010
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Failure to thrive, Osteoporosis, Pigmentary retinopat... OMIM:560000
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... OMIM:200600
Cartilage-Hair Hypoplasia
Narrow chest, Lumbar hyperlordosis, Prominent sternum, Asymmetry of the thorax, Narrow vertebral ... OMIM:250250
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of skin pigmentation, Atrophic scars, Anemia, Scarring alopecia of... ORPHA:79402
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... ORPHA:79345
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... ORPHA:392
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation OMIM:237450
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium c... OMIM:307800
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid... OMIM:252930
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of toe, Camptodactyly of finger, Abnormal bone structu... OMIM:300244
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Cartilage-Hair Hypoplasia
Narrow chest, Failure to thrive, Abnormality of retinal pigmentation, Abnormal bone ossification,... ORPHA:175
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia, Rickets OMIM:607765
Osteogenesis Imperfecta, Type Viii
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Inguinal hernia, Osteopenia,... OMIM:610915
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Flexion contracture, Osteopenia, Lipodystrophy, Abnormality of skin pigmentation,... ORPHA:75496
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Increased susceptibili... OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Free Sialic Acid Storage Disease
Reduced bone mineral density, Splenomegaly, Athetosis, Iris hypopigmentation, Abnormality of skin... ORPHA:834
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased HDL cholesterol concentration, Decreased LDL ch... OMIM:616834
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Rachitic ... ORPHA:157215
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... OMIM:224300
Osteogenesis Imperfecta, Type X
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Inguinal hernia, Generalized joint laxity, Os... OMIM:613848
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Cachexia, Abnormal rib morphology ORPHA:3242
Prune Belly Syndrome
Vertebral segmentation defect, Failure to thrive, Pectus excavatum, Scoliosis, Abnormal rib morph... ORPHA:2970
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Rickets OMIM:602722
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynostosis, Osteo... OMIM:616294
3M Syndrome
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Hyperlor... ORPHA:2616
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Congenital diaphragmatic hernia, Short neck, Scoliosis, Abnormal f... ORPHA:1834
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Scoliosis, Radioulnar synostosis, Abnormal rib morphology ORPHA:2319
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Failure to thrive, Flexion contracture, Steatorrhea, Intention tremor, Osteopenia, Trem... OMIM:212065
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... OMIM:230500
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Scoliosis, Joint laxity ORPHA:457260
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Limitation of joint mobility, Hypopigmentation of th... ORPHA:96061
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Prominent sternum, Barrel-shaped che... OMIM:223800
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Craniosynostosis, Scoliosis, Chor... ORPHA:261197
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hernia of the abdominal wall, Short neck, Pectus carinatum, Abnormal rib morphology ORPHA:3082
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, In... ORPHA:289176
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs OMIM:608940
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Fibrochondrogenesis 1
Joint contracture of the hand, Thin ribs, Short ribs, Long clavicles, Thin clavicles, Platyspondy... OMIM:228520
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Pectus carinatum, Hyperlo... OMIM:612921
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Spotty hyperpigmentation, Joint stiffness, Lipoatrophy, Thin ribs, Flexion con... OMIM:614008
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Rickets ORPHA:89937
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis, Head titubation OMIM:614688
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs, Amelo... OMIM:610319
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib mor... ORPHA:2050
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... OMIM:607778
Blackfan-Diamond Anemia
Sprengel anomaly, Increased mean corpuscular volume, Neutropenia, Small for gestational age, Pers... ORPHA:124
Mccune-Albright Syndrome
Recurrent fractures, Monostotic fibrous dysplasia, Hypophosphatemia, Fibrous dysplasia of the bon... ORPHA:562
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Short neck, Anterior rib cuppin... OMIM:300232
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia, Neutropenia ORPHA:2643
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2876
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... ORPHA:2911
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis, Abnormal serum ... ORPHA:79303
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Occipital Horn Syndrome
Pectus excavatum, Hiatus hernia, Osteopenia, Platyspondyly, Down-sloping shoulders, Pectus carina... ORPHA:198
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Thin ribs, Long clavicles, Thin clavicles, Calvarial osteosclerosis... OMIM:244460
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Splenomegaly, Omphalocele, Abnormally ossified vertebrae ORPHA:3035
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Steatorrhea, Osteoporosis, Macrocytic anemia, Enamel hypoplasia,... OMIM:212750
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Limitation of joint mobility, Craniofac... ORPHA:3068
Abetalipoproteinemia
Failure to thrive, Kyphoscoliosis, Abnormality of retinal pigmentation, Abnormal circulating apol... ORPHA:14
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Broad ribs... OMIM:619698
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Loss of truncal subcu... ORPHA:2463
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Umb... ORPHA:800
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... ORPHA:93473
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Vici Syndrome
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... OMIM:242840
Lethal Congenital Contracture Syndrome 10
Narrow chest, Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, ... OMIM:617022
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalac... OMIM:227810
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... ORPHA:2769
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Reduced bone mineral density, Multiple lipomas, Abnormality of skin... ORPHA:1414
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Pectus excavatum, Hypocalcemia, Inguinal hernia, Small for gest... OMIM:613658
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... ORPHA:1394
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Limited elbow extension, Hyperosto... OMIM:604922
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Abnormal cervical curvature, Increased susceptibility to fracture... OMIM:312150
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Small for gestational age, Elevated circulating creatine kinase c... OMIM:615368
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Thin ribs, Thin clavicles, Hypocalcemic... ORPHA:93324
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Pectus excavatum, Radioulnar synostosis OMIM:263750
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... ORPHA:1452
Lowe Oculocerebrorenal Syndrome
Kyphosis, Failure to thrive, Joint contracture of the hand, Camptodactyly of finger, Platyspondyl... OMIM:309000
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets OMIM:613388
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... ORPHA:3258
Trisomy 13
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology, Hernia ORPHA:3378
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis ORPHA:2760
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Vertebral arch anomaly, Broad ribs ORPHA:85184
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Congenital diaphra... ORPHA:958
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Ankle flexion contracture, Craniosynostosis, ... OMIM:305620
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Cantú Syndrome
Narrow chest, Platyspondyly, Short neck, Osteoporosis, Broad ribs, Cuboid-shaped vertebral bodies... ORPHA:1517
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal form of the vertebral bodies, Abnor... ORPHA:73230
Osteogenesis Imperfecta
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Umbilical hernia, Abn... ORPHA:666
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Abnormal cervical curvature, Increased susceptibility to fracture... OMIM:253290
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Kyphosis, Thrombocytopenia, Scoliosis ORPHA:261250
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hand tremor, Splenomegaly, Chondr... OMIM:277900
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Inguinal hernia, Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abn... OMIM:308205
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, Abnormal adipose tissue morphology, Scoliosis, B l... ORPHA:79324
Cystinosis
Failure to thrive, Hypophosphatemia, Rickets, Hypokalemia ORPHA:213
Alagille Syndrome
Vertebral segmentation defect, Failure to thrive, Abnormal form of the vertebral bodies, Spina bi... ORPHA:52
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches, Foot... ORPHA:220402
Kagami-Ogata Syndrome
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Inguinal hernia, Splenomegaly, Be... OMIM:608149
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Beaking of vertebral bodies, Rib fusion, Pectus excavatum, Narrow chest, Bifid ... OMIM:213980
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Dystonia, Resting tremor, Abnormal posturing ORPHA:225147
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Generalized hyperpigmentation, Abnormality of skin pigmentation, Anemia ORPHA:2930
Oculocerebrorenal Syndrome Of Lowe
Generalized hypopigmentation, Hypoammonemia, Platyspondyly, Umbilical hernia, Joint stiffness, Sc... ORPHA:534
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Minimal subcutaneous fat, Lateral clavicle hook, Thin ribs, Joint contracture o... OMIM:182212
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Rachitic rosary, Hypercalcemia, Rickets OMIM:612089
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... ORPHA:254534
Porphyria, Congenital Erythropoietic
Corneal scarring, Joint contracture of the hand, Splenomegaly, Hypopigmentation of the skin, Oste... OMIM:263700
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Otopalatodigital Syndrome Type 2
Narrow chest, Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vert... ORPHA:90652
Hypophosphatemic Rickets
Failure to thrive, Joint stiffness, Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalaci... ORPHA:437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Congenital diaphragmatic hernia, Abnormal rib morphology ORPHA:1120
Neu-Laxova Syndrome
Flexion contracture, Opisthotonus, Osteopenia, Scoliosis, Osteomalacia, Osteoporosis, Arthrogrypo... ORPHA:2671
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Osteopenia, Hypertriglyceridemia, Rickets ORPHA:2088
Renal Tubular Acidosis Iii
Hypokalemia, Osteomalacia, Rickets OMIM:267200
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... OMIM:250420
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Thin ribs OMIM:614833
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia OMIM:134600
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Inguinal hernia, Camptodactyly of finger, Scoliosis, Abnormal rib mor... ORPHA:2215
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Hiatus hernia, Platyspondyly, Broad cl... OMIM:304150
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, O... OMIM:300009
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Neutro... ORPHA:1163
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophil nuclei, Limited e... OMIM:618019
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... ORPHA:2990
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Increased serum beta-hexosaminidase, Short ribs, Scoliosis, Broad ribs OMIM:252600
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Prominent floating ribs OMIM:152800
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae ORPHA:2167
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Multiple Pterygium Syndrome, Escobar Variant
Kyphosis, Rib fusion, Multiple joint contractures, Congenital diaphragmatic hernia, Anterior clef... OMIM:265000
Meier-Gorlin Syndrome 1
Failure to thrive, Abnormal rib cage morphology, Thin ribs, Short ribs, Absent glenoid fossa, Hem... OMIM:224690
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Osteomalacia, Osteoporosis, Iron deficiency anemia, Weight loss, Rickets ORPHA:309031
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Irregular vertebral endplates, Carpal synostosis, Kyphoscoliosis, Decreased body weight, Advanced... OMIM:271640
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Abnormality of retinal pigmentation, Hiatus hernia, ... ORPHA:50
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Irregular ossification... OMIM:109400
Microcephaly-Micromelia Syndrome
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis OMIM:251230
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Thin ribs, Hypoplastic spleen, Decreased skull ossification, Asp... OMIM:602361
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Ovoid vertebral bodies, Bell-shaped thorax OMIM:244450
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Inguinal herni... OMIM:252940
Bone Marrow Failure Syndrome 3
Failure to thrive, Reduced bone mineral density, Aplastic anemia, Enamel hypoplasia, Pancytopenia... OMIM:617052
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... ORPHA:3003
Craniolenticulosutural Dysplasia
Narrow chest, Scoliosis, Joint hyperflexibility, Hyperpigmentation of the skin, Abnormality of sk... ORPHA:50814
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Kniest-Like Dysplasia, Lethal
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Broad ribs, Co... OMIM:245190
Mucopolysaccharidosis, Type Vi
Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Flexion contracture, In... OMIM:253200
Kagami-Ogata Syndrome
Kyphoscoliosis, Limitation of joint mobility, Inguinal hernia, Coat hanger sign of ribs, Short ne... ORPHA:254519
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Congenital diaphragmatic hernia, Hypopigmented skin patches, Missing ribs ORPHA:1647
Hennekam-Beemer Syndrome
Failure to thrive, Irregular hyperpigmentation, Camptodactyly of finger, Scoliosis, Mastocytosis,... ORPHA:2135
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Camptodact... ORPHA:83
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Abnormality of the vertebral column, Short neck, Abnormal rib morphol... ORPHA:77301
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypophosphatemia, Rickets, Hypouricemia OMIM:616026
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Retinal pi... OMIM:219800
Sclerosteosis 1
Cortically dense long tubular bones, Broad clavicles, Facial palsy secondary to cranial hyperosto... OMIM:269500
Vacterl/Vater Association
Vertebral segmentation defect, Congenital diaphragmatic hernia, Abnormal rib morphology, Omphaloc... ORPHA:887
Severe Congenital Nemaline Myopathy
Flexion contracture, Thin ribs, Increased connective tissue, Abnormal thorax morphology, Arthrogr... ORPHA:171430
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Cohen Syndrome
Kyphosis, Pectus excavatum, Abnormality of retinal pigmentation, Scoliosis, Joint hyperflexibilit... ORPHA:193
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Joint hypermobility OMIM:114620
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... ORPHA:254528
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Scoliosis, Broad ribs OMIM:269300
Cog1-Cdg
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... ORPHA:263508
Short Rib-Polydactyly Syndrome
Narrow chest, Abnormal bone ossification, Short ribs, Reduced bone mineral density, Absent or min... ORPHA:1505
Stuve-Wiedemann Syndrome 1
Thin ribs, Short neck, Scoliosis, Osteoporosis, Camptodactyly, Pathologic fracture, Flexion contr... OMIM:601559
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Inguinal hernia, Reduced bone... ORPHA:581
Distal Renal Tubular Acidosis
Failure to thrive, Hypokalemia, Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Inc... ORPHA:18
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Abnormal rib morphology, Short thorax, ... ORPHA:261344
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Joint stiffness, Pectus excavatum, Cortical thickening of long bone diaphyses, Cr... ORPHA:309282
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Sclerosis of skull base, Pectus excavatum, Joint contracture of the hand, Trac... OMIM:300373
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Osteomalacia, Hypercalcemia, Hypermagnesemia OMIM:600740
Focal Dermal Hypoplasia
Short clavicles, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Short ribs,... ORPHA:2092
Incontinentia Pigmenti
Irregular hyperpigmentation, Camptodactyly of finger, Eosinophilia, Scoliosis, Spina bifida occul... ORPHA:464
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Thrombocytopenia, Abnormality of skin pigmentation, Pancy... OMIM:227650
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Small for gestational age, Tracheomala... OMIM:234100
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosi... ORPHA:667
Wolf-Hirschhorn Syndrome
Kyphosis, Rib fusion, Failure to thrive, Congenital diaphragmatic hernia, Abnormality of the vert... ORPHA:280
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Lipoma, Hemivertebrae, Scoliosis, Mis... OMIM:304050
Van Den Ende-Gupta Syndrome
Short clavicles, Pectus excavatum, Lateral clavicle hook, Thin ribs, Short ribs, Joint contractur... OMIM:600920
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Failure to thrive, Kyphoscoliosis, Thoracic scoliosis, Delaye... OMIM:114290
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow chest, Elbow ankylosis, Flexion contracture, Craniosynostosis, Decreased circulating corti... ORPHA:95699
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... ORPHA:96334
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Renal hypophosphate... ORPHA:1652
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Thin ribs, He... OMIM:200980
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness, Nonketotic hyperglycinemia, Scoliosis ORPHA:1300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Platyspondyly, Scoliosis, Hypotriglyceridemia, Ovoid vertebr... ORPHA:85167
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Kyphosis, Failure to thrive, Ivory epiphyses of the phalange... OMIM:133540
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Short sternum, Opisthotonus, Long clavicles, Short ne... OMIM:269150
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Bone spicule pigmentation of the retina, Recurrent fractures, Rickets OMIM:268315
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Hepatosplenomegaly, Limited elbow extension, Hyperlordosis, Broad r... OMIM:301066
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Thin ribs, Mildly elevated creatine kinase ORPHA:169189
Eiken Syndrome
Delayed epiphyseal ossification, Decreased body weight, Delayed ossification of carpal bones, Del... OMIM:600002
Infantile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Pigmentary retinopathy, Abnormal blood ion conc... ORPHA:411629
Mastocytosis
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Abnormality of skin pigmentation, ... ORPHA:98292
Osteogenesis Imperfecta, Type Vii
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... OMIM:610682
Myhre Syndrome
Joint stiffness, Inguinal hernia, Platyspondyly, Abnormal rib morphology, Femoral hernia, Craniof... ORPHA:2588
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Inguinal hernia, Proximal symphalangism of hands, Hyperextensibility of the fi... OMIM:151050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Osteopenia, Short neck, Osteomalacia, Abnormal form of the vertebr... ORPHA:2636
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Proteus Syndrome
Craniosynostosis, Calvarial hyperostosis, Generalized hyperpigmentation, Abnormal subcutaneous fa... ORPHA:744
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Xylt1-Cdg
Short clavicles, Joint laxity, Broad ribs, Truncal obesity ORPHA:370930
Kyphomelic Dysplasia
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Thoracic hypopl... OMIM:211350
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Pectus excavatum, Hypocalcemia, Prominent floating ribs, ... ORPHA:2785
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Thin bony cortex, Broad ... OMIM:277600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Inguinal hernia, Thin ribs, Osteopenia, Platyspondyly, Osteoporosis, Progressive ... OMIM:225400
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Kyphosis, Failure to thrive, Hip contracture, Ivory epiphyse... OMIM:216400
Short-Rib Thoracic Dysplasia 12
Narrow chest, Inguinal hernia, Short ribs, Splenomegaly, Short neck, Hypoplastic scapulae, Horizo... OMIM:269860
Robinow Syndrome, Autosomal Recessive 1
Rib fusion, Pectus excavatum, Inguinal hernia, Hypoplastic sacrum, Hemivertebrae, Short neck, Sco... OMIM:268310
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Spina bifida occulta, Abnormal rib morphology, Thickened cortex of long b... ORPHA:488434
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Incontinentia Pigmenti
Kyphoscoliosis, Scarring, Leukocytosis, Hemivertebrae, Eosinophilia, Abnormality of skin pigmenta... OMIM:308300
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Alkaptonuria
Intervertebral disk calcification, Joint stiffness, Irregular hyperpigmentation, Reduced bone min... ORPHA:56
Dubowitz Syndrome
Inguinal hernia, Aplastic anemia, Hypocholesterolemia, Acute lymphoblastic leukemia, Sacral dimple OMIM:223370
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Platyspondyly, Pectus carinatum, Horizontal ribs... OMIM:263520
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Trisomy 18
Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Cachexia, Camptodactyly of ... ORPHA:3380
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Osteomalacia, Decreased plasma carnitine... ORPHA:3337
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Pectus excavatum, Short sternum, Congenital diaphragmatic hernia, ... OMIM:312870
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital diaphragmatic hernia, Inguinal hernia... ORPHA:373
Alagille Syndrome 1
Failure to thrive, Hemivertebrae, Pigmentary retinopathy, Abnormal rib morphology, Hypertriglycer... OMIM:118450
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Platyspondyly, Narrow chest, Abnormal rib morphology ORPHA:93317
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Rib gap, Anomalous rib insertion to vertebrae, 11 pairs of ribs, ... OMIM:117650
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Rib fusion, Inguinal hernia, Sacral dimple ORPHA:544488
Kbg Syndrome
Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Cervical ribs, Vertebral fusion OMIM:148050
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Microcephaly, Short Stature, And Limb Abnormalities
Abnormal rib morphology, Radioulnar synostosis OMIM:617604
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Osteopetrosis, Multiple rib fractures, Abnormal trabecular bone morphology, Anemia,... OMIM:612301
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Thin bony cortex, Broad ... OMIM:608328
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Pectus excavatum, Flexion contracture, Thin ribs, Osteopenia, Elevated hemoglobi... OMIM:619127
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Inguinal hernia, Hemivertebrae, Scoliosis, Limit... OMIM:134780
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Thin ribs, Long clavicles, Inguinal hernia, Contracture of the distal interpha... ORPHA:83617
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Rickets OMIM:219900
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Kyphosis, Rib fusion, Pectus excavatum, Inguinal hernia, Camptodac... ORPHA:1507
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... OMIM:250220
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Elevated circulating C-reactive protein con... OMIM:619381
Familial Hypocalciuric Hypercalcemia
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Hypermagnesemia, ... ORPHA:405
Myhre Syndrome
Joint stiffness, Small for gestational age, Platyspondyly, Enlarged vertebral pedicles, Short nec... OMIM:139210
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short ribs, Scoliosis, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook OMIM:613091
Monosomy 9P
Congenital diaphragmatic hernia, Abnormality of the vertebral column, Short neck, Scoliosis, Abno... ORPHA:261112
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility OMIM:300219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short ribs, Decreased calvarial ossification, Short neck, Long thorax, Horizontal r... OMIM:617925
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Camptodactyly of finger, Joint hyperflexibility, Abnormal rib morpho... ORPHA:2907
Kindler Epidermolysis Bullosa
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Abnormality of skin pigmen... ORPHA:2908
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Bell-shaped thorax, Horizontal ribs, Omphalocele, Unicoronal synostosis OMIM:616300
Zttk Syndrome
Kyphosis, Rib fusion, Failure to thrive, Flexion contracture, Craniosynostosis, Hemivertebrae, Sc... OMIM:617140
Schinzel-Giedion Syndrome
Kyphoscoliosis, Abnormal clavicle morphology, Sclerosis of skull base, Inguinal hernia, Short nec... ORPHA:798
Smith-Lemli-Opitz Syndrome
Kyphosis, Elevated 7-dehydrocholesterol, Congenital diaphragmatic hernia, Short neck, Scoliosis, ... ORPHA:818
Robinow Syndrome
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Small for gestational age, Hemivertebrae, S... ORPHA:97360
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Hyperbilirubinemia, Inguinal hernia, Short ribs, Craniosynostosis... OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Short ribs, Early ossification of capital femoral epiphyses, Conjugated hyperbiliru... OMIM:208500
Cardiospondylocarpofacial Syndrome
Failure to thrive, Rib fusion, Carpal synostosis, Congenital diaphragmatic hernia, Scoliosis, Fus... OMIM:157800
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Mucopolysaccharidosis Type 2, Severe Form
Spinal canal stenosis, Thickened ribs, Abnormality of retinal pigmentation, Flexion contracture, ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Spinal canal stenosis, Thickened ribs, Abnormality of retinal pigmentation, Flexion contracture, ... ORPHA:217093
Coccidioidomycosis
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormality of the spleen, Arth... ORPHA:228123
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Splenomegaly, Hypocholesterolemia, Sacral dimpl... OMIM:270400
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Coronal craniosynostosis, Scoliosis, Spina bifida occulta, Limited... OMIM:218600
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Thin ribs, Small for gestational age, Camptodactyly of finger, Short neck, Arthr... OMIM:208150
Pseudo-Torch Syndrome 2
Thrombocytopenia, Thin ribs OMIM:617397
Ellis-Van Creveld Syndrome
Narrow chest, Short ribs, Pectus carinatum, Horizontal ribs, Capitate-hamate fusion OMIM:225500
Fryns Syndrome
Joint contracture of the hand, Thin ribs, Short neck, Aplasia of the left hemidiaphragm, Camptoda... OMIM:229850
Ear-Patella-Short Stature Syndrome
Failure to thrive, Craniosynostosis, Camptodactyly of finger, Aplastic clavicle, Abnormal rib mor... ORPHA:2554
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Failure to thrive, Reduced subcutaneous adipose tissue, Lipoatrophy, Thin ribs, Sma... OMIM:264090
Wolf-Hirschhorn Syndrome
Kyphosis, Rib fusion, Abnormal sternal ossification, Failure to thrive, Small for gestational age... OMIM:194190
1P36 Deletion Syndrome
Spinal canal stenosis, Kyphosis, Bifid ribs, Rib fusion, Ocular albinism, Failure to thrive, Join... ORPHA:1606
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Thin bony cortex, Broad ribs OMIM:619727
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hemivertebrae, Barrel-shaped chest, Short neck, Decreased cal... OMIM:276820
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Short clavicles, Pectus excavatum, Inguinal hernia, Craniosynostosis, Undulate ribs,... OMIM:609945
Vater/Vacterl Association
Failure to thrive, Abnormal sternum morphology, Scoliosis, Radioulnar synostosis, Abnormal rib mo... OMIM:192350
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Renal Dysplasia-Limb Defects Syndrome
Short neck, Short sternum, Thin ribs, Short ribs OMIM:266910
Pallister-Hall Syndrome
Decreased circulating cortisol level, Hemivertebrae, Rib fusion OMIM:146510
Dextrocardia
Abnormal rib morphology, Abnormality of the spleen ORPHA:1666
Restrictive Dermopathy
Multiple joint contractures, Thin ribs, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Camp... ORPHA:1662
Ulbright-Hodes Syndrome
Short sternum, Thin ribs, Short ribs, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... ORPHA:97214
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density ORPHA:138
Pagod Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnorma... ORPHA:991
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943