Gene Summary

Name:
DNA replication and sister chromatid cohesion 1
Synonyms:
2010006I05Rik,  2600005O03Rik

IMPC Data Collections

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 lumbar vertebrae number Dscc1tm1a(KOMP)Wtsi HOM Early adult 7.03×10-06
abnormal behavior Dscc1tm1a(KOMP)Wtsi HOM   Early adult 5.96×10-06
decreased total body fat amount Dscc1tm1a(KOMP)Wtsi HET Early adult 5.62×10-05
decreased circulating HDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 3.67×10-05
vertebral fusion Dscc1tm1a(KOMP)Wtsi HOM   Early adult 2.17×10-05
decreased circulating cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 5.61×10-06
increased lean body mass Dscc1tm1a(KOMP)Wtsi HET Early adult 1.21×10-05
abnormal rib morphology Dscc1tm1a(KOMP)Wtsi HOM Early adult 9.18×10-05
abnormal behavior Dscc1tm1a(KOMP)Wtsi HET Early adult 2.13×10-05
preweaning lethality, incomplete penetrance Dscc1tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating alanine transaminase level Dscc1tm1a(KOMP)Wtsi HET Early adult 9.27×10-05
decreased circulating LDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 4.03×10-05
increased bone mineral content Dscc1tm1a(KOMP)Wtsi HET   Early adult 8.47×10-05
increased blood urea nitrogen level Dscc1tm1a(KOMP)Wtsi HOM   Early adult 6.86×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

4 Images

Legacy Phenotype Associated Images

View all 187 images

View all 8 images

Human diseases caused by Dscc1 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 Dscc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Cervical Rib
Cervical ribs OMIM:117900
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Vertebral segmentation defect, Sacral dimple OMIM:618845
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Decreased calvarial ossifica... OMIM:259440
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs OMIM:619122
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Elevated circu... OMIM:606612
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:312150
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, But... ORPHA:313892
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Azotemia, Familial
Azotemia OMIM:109160
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Irregular patellae... OMIM:609052
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Pectus excavatum, Hemivertebrae, Vertebral fus... OMIM:263540
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Short thorax, Coronal... ORPHA:485
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Elevated circu... OMIM:607155
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Carpa... OMIM:618395
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Stillbir... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Synostosis of carpal bones, Pectus carinatum, Abnormal ... ORPHA:93351
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Abnormal vert... ORPHA:915
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Pectus carinatum, Capita... OMIM:271650
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Pectus excav... OMIM:130720
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Elevated circulating C-reactive prot... OMIM:612852
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Lipodystrophy, Hypertriglyceridemia, Reduced subcutaneous adi... OMIM:612526
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Neonatal death, Sma... OMIM:187601
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Stillbirth, Barrel-shaped chest, Hy... OMIM:200600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Carpal syn... OMIM:157800
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Abnormal sternum morphology, Sprengel anomaly, D... OMIM:109400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Decreased skull ossification, Abnormal... ORPHA:93267
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum... OMIM:171480
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Back pain, Increased blood urea nitrogen ORPHA:94088
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Mildly elevated creatine kinase, Short ribs, Interphalangeal ... ORPHA:1145
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synostosis OMIM:263750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe platyspondy... OMIM:151210
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormality... ORPHA:1486
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce... ORPHA:96180
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Distal ulnar epiphyseal stippling, Platyspondyly, Beaking of vertebral bodies, Delayed... OMIM:609616
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia OMIM:615633
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypocholesterolemia, Hypoalbu... OMIM:212065
3Q29 Microdeletion Syndrome
Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Delayed ... ORPHA:2475
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Stillbirth OMIM:152800
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Short thorax, Pectus carinatum, Joint hyper... ORPHA:582
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Abnormality of the ribs, Short neck ORPHA:93298
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Hyperlordosis, Delayed pubic bone ossification, Platyspondyly, Anterior r... OMIM:184250
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Cupped ribs, Delayed skeletal maturation, Thoracic hypoplasia ORPHA:168549
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Femoral-Facial Syndrome
Scoliosis, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Abnormality of the ribs, Vertebra... ORPHA:1988
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Limited elbow extension, Genu valgum, Platyspondyly, Short thorax, Abno... ORPHA:239
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormality of the elbow, Abnorm... ORPHA:2319
Achondrogenesis, Type Ii
Stillbirth, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest OMIM:200610
Pseudoachondroplasia
Scoliosis, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip extension, J... OMIM:177170
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Decreased calvarial os... OMIM:259420
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Multiple rib f... ORPHA:93299
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Thickened ribs, Diaphyseal sclerosis OMIM:122860
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Hypophosphatasia
Craniosynostosis, Narrow chest, Recurrent fractures, Hypercalcemia, Abnormality of the ribs ORPHA:436
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Scoliosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Neuropat... OMIM:223900
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Genu valgum, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253000
Atelosteogenesis, Type I
Coronal cleft vertebrae, Elbow dislocation, Narrow chest, Stillbirth, Thoracic platyspondyly, Neo... OMIM:108720
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Carpal bone hypoplasia, Thoracic kyphosis, Camptodactyly, Flat acetabula... OMIM:223800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Elbow dislocation, Synostosi... ORPHA:90652
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Stillbirth, Thoracic hypopla... OMIM:228520
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Abnormality of the ribs, Osteopenia, Short neck, Vertebral segmentation... OMIM:611209
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, In... OMIM:604922
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Thin clavicles, Thin ribs, Delayed cranial suture closure, Dec... ORPHA:93324
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Pectus excavatum, Rib fusion, Thoracic hemivertebrae, Vertebral fu... OMIM:268310
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Cervical ribs, Genu varum... ORPHA:3320
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Osteoporosis, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253010
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Beaded ribs, Recurrent fractures, Absent ossification of calvaria, ... OMIM:166210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibility, Delayed cranial sut... ORPHA:2484
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Platyspondyly, Irregular sclerotic endplates, Genu varum, Flared, irregu... OMIM:602111
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Delayed closure of the anterior fontanelle, Thin ribs, Decreased skull ossification... OMIM:244460
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Sacral dimple, Spondylolisthesis, Ver... OMIM:610443
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Pectus excavatum, Down-sloping shoulders, Vertebral f... OMIM:227330
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Joint laxity, Narrow chest, Generalized joint laxity, Broa... OMIM:613848
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Joint stiffness, Cupped ribs OMIM:608940
Ataxia With Vitamin 3 Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:277460
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Thoracic kyphosis, Flexion... OMIM:300232
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Joint laxity, Kyphosis, Recurrent fractures, Thin ribs, ... OMIM:610915
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary ribs, Missing ri... OMIM:304050
Aicardi Syndrome
Scoliosis, Rib fusion, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Bi... ORPHA:50
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Cockayne Syndrome Type 1
Scoliosis, Contractures involving the joints of the feet, Increased blood urea nitrogen ORPHA:90321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, ... OMIM:616897
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Adipose tissue loss, Increased adipose tissue... OMIM:151660
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Thin ribs,... OMIM:616294
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Delayed ossification of carpal bones, Ovoid vertebral ... OMIM:607778
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Low back pain, Elevated circulating creatinine concentration, Rheu... ORPHA:49041
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Delayed skeletal maturation ORPHA:2643
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Epiphyseal stipplin... ORPHA:79345
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252900
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Patellar aplasia, Abnormality of the ribs, Delayed... OMIM:617604
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal... ORPHA:1834
Craniofaciofrontodigital Syndrome
Narrow chest, Abnormality of the ribs, Abnormal shoulder morphology, Hypoplastic vertebral bodies... ORPHA:363705
Cenani-Lenz Syndrome
Scoliosis, Radioulnar synostosis, Synostosis of carpal bones, Abnormal form of the vertebral bodi... ORPHA:3258
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Renpenning Syndrome
Abnormality of the ribs, Pectus excavatum, Sprengel anomaly, Joint stiffness ORPHA:3242
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Abnormality of the ribs, Vertebral segme... ORPHA:2970
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Delayed skeletal maturation, Abnormality of the ribs, Limitation... ORPHA:3068
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Limited elbow movement, Abnorma... ORPHA:85167
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Hypoplasti... ORPHA:958
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Thin ribs, Flexion contracture, Congenital co... OMIM:615368
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
X-Linked Hypophosphatemia
Hypophosphatemia, Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Rickets, Beaded ribs... ORPHA:89936
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Mucopolysaccharidosis, Type Vi
Genu valgum, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Anterior wedging of L2, Lumba... OMIM:253200
Myhre Syndrome
Platyspondyly, Broad ribs, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint st... OMIM:139210
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Recurrent fractures, Elbow ankylosis, De... ORPHA:83
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252920
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Short neck ORPHA:583
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Platyspondyly, Joint laxity, Narrow chest, Br... OMIM:304150
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Craniosynostosis ORPHA:2145
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Kyphoscoliosis OMIM:252930
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow chest, Patellar ap... ORPHA:96061
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Osteoporosis, Genu valgum, Abnormality of the ribs, Narrow chest, Hypop... ORPHA:1452
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Hyperlordosis, Accelerated skeletal maturation, Limited elbow extension,... ORPHA:175
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis, Narrow chest, Abnormality of the ribs, Short neck OMIM:251230
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly, Short ribs,... ORPHA:2911
Meier-Gorlin Syndrome 1
Genu valgum, Absent glenoid fossa, Lateral clavicle hook, Joint laxity, Elbow dislocation, Pectus... OMIM:224690
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Carpal bone hypoplasia, Fused cervical vertebrae, Carpal synostosis, Cervi... OMIM:274000
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Beaking of vertebral bodies, Kyphosis, Joint stiffness, Short neck, Hy... OMIM:230500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Hypermobility of interphalangeal joints, Thorac... ORPHA:508498
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Genu valgum, Joint laxity, Carpal bone hypoplasia, Short ribs, Lumbar hyperlordosis, I... OMIM:250420
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Craniofaciofrontodigital Syndrome
Cubitus valgus, Joint hypermobility, Broad ribs, Pectus excavatum, Short neck, Hypoplastic verteb... OMIM:114620
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:617895
Hypertrichotic Osteochondrodysplasia, Cantu Type
Accelerated skeletal maturation, Osteoporosis, Platyspondyly, Broad ribs, Narrow chest, Ovoid ver... ORPHA:1517
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Genu valgum, Cubitus valgus, Broad ribs, Genu varum, Osteopenia, Sclero... OMIM:269300
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Flexion contracture, Ovoid thoracolumbar vertebrae, Joint stiffness, Short neck OMIM:252940
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Increased bone m... ORPHA:800
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Abnormal vertebral segmentation and fusion,... ORPHA:233
Trisomy 13
Scoliosis, Abnormality of the ribs, Kyphosis, Narrow chest ORPHA:3378
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Rib fusion, Fused thoracic vertebrae, Hemivertebrae, Kyphoscol... ORPHA:97360
Charcot-Marie-Tooth Disease Type 4C
Scapular winging, Abnormality of the vertebral column, Vertebral fusion, Thoracic scoliosis, Ankl... ORPHA:99949
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:3035
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Short ribs, Short neck, Hypopla... OMIM:245190
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Increased bone mineral density, Osteopenia, Vertebral arch anomaly ORPHA:85184
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Genu valgum, Craniosynostosis, Dislocated radial head, Joint laxi... OMIM:182212
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormality of the ribs, Butterfly v... ORPHA:52
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Accelerated skeletal maturation, Two carpal ossification centers present at birth, Pec... OMIM:312870
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Narrow chest, Decreased calvarial ossification, Pe... OMIM:610682
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Horizontal ribs, Short ribs, Abnormal i... ORPHA:3003
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal circulating creatine kinase concentration, Scoliosis, Camptodactyly of finger, Arthrogry... ORPHA:2215
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Lethal Congenital Contracture Syndrome 10
Short neck, Broad ribs, Narrow chest, Stiff neck, Thoracic scoliosis OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Multiple pterygia, Camptodactyly of finger, Arthrogryposis multiplex congenita, Axilla... ORPHA:2990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Joint laxity, Ovoid vertebral bodies, Pathologic fracture, Advanced ossification... OMIM:271640
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Fibrous Dysplasia Of Bone
Hypophosphatemia, Scoliosis, Abnormal clavicle morphology, Osteolysis, Patchy reduction of bone m... ORPHA:249
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Nonketotic hyperglycinemia, Joint stiffness, Abnormality of the ribs, Popliteal pterygium ORPHA:1300
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnorm... ORPHA:93317
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Abnormal thorax morphology, Thin ribs, M... ORPHA:171430
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia OMIM:270400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Vertebral segmentation defect ORPHA:1120
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abnormality of the r... ORPHA:95699
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Narrow chest, Abnormal form of the... ORPHA:73230
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Flexion contracture of finger, Joint laxity, Thoracic hypoplasia, Camptodactyl... ORPHA:254528
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Wormian bones, Narrow chest, Bone pain, Increased susceptibility ... ORPHA:666
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Kagami-Ogata Syndrome
Flexion contracture, Bell-shaped thorax, Thin ribs, Kyphoscoliosis, Long clavicles OMIM:608149
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Pterygium, Flat ... OMIM:211350
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs, Capitate-hamate fusion,... OMIM:225500
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Camptodactyly, Pectus excavatum, H... OMIM:617137
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Stuve-Wiedemann Syndrome
Scoliosis, Osteoporosis, Enlarged joints, Short neck, Flexion contracture of toe, Talipes valgus,... OMIM:601559
Hurler Syndrome
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormal vertebral morphology, ... ORPHA:93473
Acrorenal-Mandibular Syndrome
Narrow chest, Hypoplastic scapulae, Hemivertebrae, Thin ribs, Abnormal sacral segmentation, Kypho... OMIM:200980
Sclerosteosis 1
Broad clavicles, Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae OMIM:269500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Abnormal bone ossification, Lumbar hemivertebrae, Pectus excavatum, Thin rib... ORPHA:2463
Vacterl/Vater Association
Abnormality of the ribs, Abnormality of the intervertebral disk, Vertebral segmentation defect, A... ORPHA:887
Van Den Ende-Gupta Syndrome
Dislocated radial head, Lateral clavicle hook, Craniosynostosis, Camptodactyly of toe, Pectus exc... OMIM:600920
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Aspergillosis
Abnormality of the ribs, Abnormality of the vertebral column, Osteomyelitis ORPHA:1163
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Missing ribs, Congenital hip dislocation ORPHA:1647
Radio-Renal Syndrome
Abnormality of the ribs, Abnormality of the elbow, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Xylt1-Cdg
Accelerated skeletal maturation, Broad ribs, Joint laxity, Joint dislocation, Short clavicles ORPHA:370930
Monosomy 9Q22.3
Accelerated skeletal maturation, Abnormality of the vertebral column, Joint hyperflexibility, Kyp... ORPHA:77301
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Short Rib-Polydactyly Syndrome
Abnormal bone ossification, Abnormal hand bone ossification, Narrow chest, Thoracic hypoplasia, H... ORPHA:1505
Trisomy 1Q
Abnormality of the ribs, Camptodactyly of finger, Short thorax ORPHA:261344
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Long clavicles, Corona... ORPHA:83617
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Beaking of vertebral bodies, Rib ... OMIM:213980
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Rib fusion, Abnormal vertebral morphology ORPHA:261197
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Thoracic hypoplasia, Horizontal ribs, Short ribs, Acetabular spurs OMIM:613091
Hallermann-Streiff Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Wormian bones, Pectus excavatum, Abnormal rib cage... OMIM:234100
Femoral-Facial Syndrome
Scoliosis, Humeroradial synostosis, Radioulnar synostosis, Sprengel anomaly, Dysplastic sacrum, R... OMIM:134780
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs... OMIM:263520
Cerebrocostomandibular Syndrome
Scoliosis, Congenital hip dislocation, Thoracic hypoplasia, Bell-shaped thorax, Anomalous rib ins... OMIM:117650
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Broad ribs, Proximal symphalangism of hands, Broad clavicles, Delayed cr... OMIM:151050
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Decreased calvarial ossification, Horizontal ribs, Short rib... OMIM:617925
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Coat hanger sign of ribs, Kyphoscoliosis, Short neck, Li... ORPHA:254519
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly... ORPHA:96334
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Horizontal inferior border of scapula, Short ribs, Flat acetabular r... OMIM:250220
Gracile Bone Dysplasia
Thin ribs, Hypocalcemia, Decreased skull ossification OMIM:602361
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Delayed closure of the anterior fontanelle, Broad ribs, Campto... OMIM:300373
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Flat acetabular roof, Kyphoscoli... ORPHA:263508
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Genu valgum, Platyspondyly, Craniosynostosis, Osteolysis, Joint laxity, Pectus ca... ORPHA:309282
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Conjugated hyperbilirubinemia, Horizontal ribs, Short ribs, ... OMIM:208500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Renal Dysplasia-Limb Defects Syndrome
Short sternum, Short ribs, Thin ribs, Neonatal death, Short neck OMIM:266910
Mucopolysaccharidosis Type 3
Scoliosis, Genu valgum, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Flex... ORPHA:581
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Narrow chest, Bell-shaped thorax, Horizontal ribs, Short ribs, Flat acetab... OMIM:616300
Short-Rib Thoracic Dysplasia 12
Short thorax, Narrow chest, Hypoplastic scapulae, Horizontal ribs, Short ribs, Neonatal death, Sh... OMIM:269860
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormality of the ribs, Osteopenia, Short neck, Delayed skeletal maturation ORPHA:488434
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis OMIM:277600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Prominent sternum, Carpal bone aplasia, Broad ribs, Barrel-shaped chest,... OMIM:276820
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Genu valgum, Scoliosis, Joint swelling, Pl... ORPHA:534
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Elevated hemoglobin A1c, Pectus excavatum, Flexion contracture, Thin ribs, Hypertrig... OMIM:619127
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Mildly elevated creatine kinase ORPHA:169189
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Abnormal vertebral morphology, Sagittal craniosynostosis,... OMIM:218600
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Delayed tarsal ossification, Flat acetabular ro... OMIM:600002
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Narrow chest, Recurrent fractures, Bone pain, O... ORPHA:667
Wolf-Hirschhorn Syndrome
Osteoporosis, Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abno... ORPHA:280
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Sacrococcygeal teratoma, Broad ribs, Metopic sutu... OMIM:269150
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Joint hyperflexibility, Patellar ap... ORPHA:2554
Weill-Marchesani Syndrome 2
Scoliosis, Broad ribs, Flexion contracture of toe, Lumbar hyperlordosis, Joint stiffness, Spinal ... OMIM:608328
Myhre Syndrome
Abnormality of the ribs, Platyspondyly, Joint stiffness ORPHA:2588
Dextrocardia
Abnormality of the ribs, Congenital hip dislocation ORPHA:1666
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Synostosis of carpal bones, Elbow dislocation, Pectus carinat... ORPHA:1507
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Arthrogryposis multiplex congenita, Stillbirth, Thoracic hypoplasia, Elb... OMIM:208150
Pallister-Hall Syndrome
Rib fusion, Radial head subluxation, Hemivertebrae, Neonatal death, Hip dislocation OMIM:146510
Cranioectodermal Dysplasia 2
Craniosynostosis, Joint laxity, Narrow chest, Pectus excavatum, Hyperbilirubinemia, Horizontal ri... OMIM:613610
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, Abnormal vertebral morphology ORPHA:444077
Monosomy 9P
Scoliosis, Abnormality of the vertebral column, Abnormality of the ribs, Short neck, Limitation o... ORPHA:261112
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Alagille Syndrome 1
Hypercholesterolemia, Hemivertebrae, Hypertriglyceridemia, Abnormality of the ribs, Butterfly ver... OMIM:118450
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemi... OMIM:617140
Ulbright-Hodes Syndrome
Humeroradial synostosis, Short sternum, Short ribs, Thin ribs, Ovoid thoracolumbar vertebrae, Abn... ORPHA:3404
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Trisomy 18
Abnormality of the ribs, Camptodactyly of finger, Delayed skeletal maturation ORPHA:3380
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Dislocated radial head, Craniosynostosis, Pectus excavatum, Delayed skeletal maturation, Patellar... OMIM:609945
Smith-Lemli-Opitz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Elevated 7-dehydrocholesterol, Abnorm... ORPHA:818
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Schinzel-Giedion Syndrome
Scoliosis, Stiff elbow, Wormian bones, Sacrococcygeal teratoma, Abnormal clavicle morphology, Rad... ORPHA:798
Restrictive Dermopathy
Camptodactyly of finger, Arthrogryposis multiplex congenita, Thoracic kyphoscoliosis, Aplasia/Hyp... ORPHA:1662
Hereditary Acrokeratotic Poikiloderma
Abnormality of the ribs, Joint hyperflexibility, Camptodactyly of finger ORPHA:2907
Fryns Syndrome
Broad ribs, Stillbirth, Thoracic hypoplasia, Camptodactyly, Thin ribs, Joint contracture of the h... OMIM:229850
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Short clavicles OMIM:617088
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Abnormal vertebral morphology, Flexion contracture, Spin... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Abnormal vertebral morphology, Flexion contracture, Spin... ORPHA:217093
Vater/Vacterl Association
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormal sternum morphology, Abn... OMIM:192350
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Kindler Epidermolysis Bullosa
Abnormality of the ribs, Camptodactyly of finger, Flexion contracture ORPHA:2908
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Rib fusion, Delayed cranial suture closure, Joint s... ORPHA:1606
Coccidioidomycosis
Osteolysis, Broad ribs, Abnormality of the vertebral column, Osteomyelitis, Arthritis ORPHA:228123
Charge Syndrome
Scoliosis, Abnormality of the ribs, Hemivertebrae, Abnormality of bone mineral density ORPHA:138
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Flexion contracture, Thin ribs, Hypertrigl... OMIM:264090
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Rib fusion, Hemivertebrae, Lumbar hyperlordosis... ORPHA:500150
Charge Syndrome
Scoliosis, Hypocalcemia, Down-sloping shoulders, Hemivertebrae, Abnormality of the ribs OMIM:214800
Pagod Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:991
Townes-Brocks Syndrome
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:857
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Camptodactyly, Ri... OMIM:607872
Pallister-Hall Syndrome
Rib fusion, Radial head subluxation, Hemivertebrae, Distal arthrogryposis, Hip dislocation ORPHA:672

Histopathology

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

There is no histopathology data for Dscc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dscc1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)