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Gene: Mbtd1 MGI:2143977

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Gene Summary

Name:
mbt domain containing 1
Synonyms:
hemp

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 4.49×10-06
increased circulating LDL cholesterol level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 6.96×10-06
increased lactate dehydrogenase level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 2.66×10-05

Download data as:  TSV  XLS

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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 Ambiguous
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 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 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 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
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 0.19% (1 of 515)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.75% (4 of 531)
brainstem 0.2% (1 of 507)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.57% (3 of 529)
cerebral cortex 0.19% (1 of 521)
eye 0.0%
gall bladder 0.0%
heart 0.38% (2 of 521)
hippocampus 0.38% (2 of 531)
hypothalamus 0.38% (2 of 531)
kidney 4.62% (25 of 541)
large intestine 5.61% (29 of 517)
liver 0.0%
lower urinary tract 0.19% (1 of 526)
lung 0.38% (2 of 527)
lymph node 0.19% (1 of 532)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 538)
ovary 0.19% (1 of 532)
oviduct 0.0%
pancreas 0.98% (5 of 510)
parathyroid gland 0.19% (1 of 517)
peripheral nervous system 0.39% (2 of 515)
peyer's patch 0.65% (1 of 153)
pituitary gland 0.0%
prostate gland 2.09% (11 of 526)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 521)
small intestine 5.48% (29 of 529)
spinal cord 0.57% (3 of 523)
spleen 0.37% (2 of 536)
stomach 3.66% (19 of 519)
striatum 0.39% (2 of 518)
testis 1.14% (6 of 527)
thymus 0.19% (1 of 518)
thyroid gland 2.89% (15 of 519)
trachea 0.57% (3 of 525)
uterus 0.38% (2 of 525)
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.

Legacy Phenotype Associated Images
Mbtd1tm2a(EUCOMM)Wtsi
head, HET, Male, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
body, HET, Male, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
head, HET, Male, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
body, HET, Male, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 67 images

Mbtd1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mbtd1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Mbtd1 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 Mbtd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... ORPHA:2522
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... ORPHA:3268
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... ORPHA:1394
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Supern... ORPHA:64755
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia, Fused cervic... OMIM:612852
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Scoliosis, Radioulnar synostosis, Ab... ORPHA:1988
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Ankle flexion contrac... OMIM:305620
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Irregular ossification... OMIM:109400
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Sacral dimple OMIM:618845
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... OMIM:265000
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology OMIM:608406
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
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
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... ORPHA:3320
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Scoliosis, Missing ribs, Block verte... ORPHA:50
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Hemivertebrae, Scoliosis, Missing ri... OMIM:304050
Atelosteogenesis, Type I
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Neonatal death, Bel... OMIM:108720
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... ORPHA:2635
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Recurrent fractures, Thin ribs, Decreased calvarial ossificatio... OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Rib fusion, Scoliosis, Ankle clonus OMIM:614688
Osteogenesis Imperfecta, Type V
Recurrent fractures, Anterior radial head dislocation, Limited pronation/supination of forearm, H... OMIM:610967
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Kbg Syndrome
Delayed skeletal maturation, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent ... ORPHA:2332
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... OMIM:609052
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... ORPHA:1836
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis ORPHA:261197
Metatropic Dysplasia
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... OMIM:156530
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof OMIM:617159
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mosaic Trisomy 20
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Limited pronation/s... ORPHA:1724
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... ORPHA:313892
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Osteoporosis, Pectus carinatum, Generalized osteoporosis OMIM:613849
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Narrow chest, Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density,... ORPHA:163649
Stuve-Wiedemann Syndrome 2
Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Thrombocytopenia, Stillbirth, Tho... OMIM:619751
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic hypopl... OMIM:166210
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck, Neutropenia OMIM:609053
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... OMIM:618395
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Platyspondyly, Scoliosis, Osteoporosi... OMIM:619131
1P36 Deletion Syndrome
Spinal canal stenosis, Kyphosis, Bifid ribs, Rib fusion, Joint stiffness, Annular pancreas, Delay... ORPHA:1606
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis,... OMIM:614856
Robinow Syndrome, Autosomal Recessive 1
Delayed skeletal maturation, Rib fusion, Wide anterior fontanel, Pectus excavatum, Dislocated rad... OMIM:268310
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, L... ORPHA:93267
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... ORPHA:93351
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Wide anterior fontanel, Joint contra... OMIM:228520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Death in infancy... OMIM:617405
Frontometaphyseal Dysplasia
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand,... ORPHA:1826
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... OMIM:271650
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... OMIM:187760
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Bruck Syndrome 2
Flexion contracture, Osteopenia, Platyspondyly, Wormian bones, Pectus carinatum, Elbow flexion co... OMIM:609220
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of... ORPHA:83617
Cog1-Cdg
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... ORPHA:263508
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, C... OMIM:148050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Thoracic scoliosis, Pectus excavatum, Generalized joint laxity... ORPHA:508498
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Wormian bones, Vertebral arch... ORPHA:85184
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Genu varum, Carpal bone hypopl... OMIM:274000
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Coronal craniosynostosis, Carpal bone aplasia, Scoliosis, Spina bi... OMIM:218600
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Abnormal f... ORPHA:2021
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormality of the spleen, Abnormal form of the vertebral bodies, Abnorm... ORPHA:93941
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... ORPHA:93315
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Apert Syndrome
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... OMIM:101200
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Sclerosis of skull base, Osteopenia, Scoliosis, Wormian bones, Genu varum... OMIM:269300
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Recurrent fractures, Thin ribs, Osteopenia, Barrel-shaped chest... OMIM:610915
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Osteogenesis Imperfecta, Type Vii
Narrow chest, Recurrent fractures, Wide anterior fontanel, Pectus excavatum, Multiple rib fractur... OMIM:610682
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... ORPHA:168549
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... ORPHA:628
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Hype... ORPHA:970
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Prominent sternum, Hepatomegaly, Anterior beaking of lumbar vertebrae, Pla... OMIM:253000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... OMIM:263540
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... OMIM:617952
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Osteopenia, Decreased calvarial ossifi... OMIM:616229
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Bruck Syndrome
Recurrent fractures, Kyphosis, Joint stiffness, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... ORPHA:2771
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Dysplastic sacrum, Short ribs, Short neck, Wormian bones, Bell-shaped thorax, Sever... OMIM:613320
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... OMIM:151210
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles OMIM:616863
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly, Wormian bones OMIM:601356
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Pectus excavatum, Decreased calvarial ossification, Wormian bones, Pectus carinatum, Bowing of li... OMIM:259410
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the elbow, Radioulnar synostosis, Abnormal rib morphology, Abnormality ... ORPHA:2319
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Wolf-Hirschhorn Syndrome
Kyphosis, Rib fusion, Abnormality of the vertebral column, Scoliosis, Abnormal form of the verteb... ORPHA:280
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoli... OMIM:252900
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Wide anterior fontanel, Camptodactyly of finger, 11 pairs of ribs, Scolio... OMIM:607872
Mucopolysaccharidosis, Type Ivb
Kyphosis, Prominent sternum, Hepatomegaly, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviatio... OMIM:253010
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta OMIM:607323
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Sh... OMIM:300232
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio... OMIM:184250
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Hemivertebrae, Scoliosis, Limited elbow movement... OMIM:134780
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Delayed cranial suture closure, Scoliosis, Hyperlordosis, Abnormality of the wr... ORPHA:2511
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Kyphosis, Rib fusion, Pectus excavatum, Camptodactyly of finger, S... ORPHA:1507
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostos... OMIM:157800
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... OMIM:230500
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Thoracic kyphosis, Platyspondyly, Wormian bones OMIM:619638
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... ORPHA:2050
Osteogenesis Imperfecta, Type Iv
Kyphosis, Otosclerosis, Recurrent fractures, Reduced bone mineral density, Biconcave flattened ve... OMIM:166220
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Schneckenbecken Dysplasia
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... OMIM:269250
Aarskog-Scott Syndrome
Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... ORPHA:915
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... OMIM:611209
Hypophosphatasia, Infantile
Stillbirth, Widely patent fontanelles and sutures, Short ribs, Vertebral clefting, Craniosynostos... OMIM:241500
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Large fontanelles ORPHA:87
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal rib morphology... ORPHA:2484
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... OMIM:617137
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense... OMIM:252920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... ORPHA:2759
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Zttk Syndrome
Kyphosis, Rib fusion, Flexion contracture, Craniosynostosis, Hemivertebrae, Scoliosis, Cervical r... OMIM:617140
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Arthrogryposis multiplex ... ORPHA:1145
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hepatomegaly, Splen... OMIM:252930
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae, Neonatal death, Radial head subluxation, Hip dislocation OMIM:146510
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Joi... ORPHA:2475
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Hypoplastic acetabulae, Atlantoaxial instability, Horizontal inferio... ORPHA:239
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Sh... ORPHA:2347
Chops Syndrome
Cervical C2/C3 vertebral fusion, Splenomegaly, Tracheomalacia OMIM:616368
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... ORPHA:392
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Short neck, Large fontanelles ORPHA:1832
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Pseudoachondroplasia
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular car... OMIM:177170
Chromosome 16Q22 Deletion Syndrome
Narrow chest, Wide anterior fontanel, Prominent metopic ridge, Short neck, Wormian bones OMIM:614541
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Stillbirth OMIM:200610
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral b... OMIM:608728
Cutis Laxa, Autosomal Recessive, Type Iiia
Pectus excavatum, Congenital hip dislocation, Scoliosis, Wide cranial sutures, Wormian bones, Joi... OMIM:219150
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow extension, Delayed closure of th... OMIM:604922
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Abnormal thorax morphol... ORPHA:1318
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Wormian bones, Multiple small vertebral fractu... OMIM:619795
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, Platyspondyly, Short neck, W... OMIM:616897
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Delayed skeletal maturation, Carpal synostosis, C2-C3 subluxation,... OMIM:272460
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Abnormal t... OMIM:253310
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Cooper-Jabs Syndrome
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Mucopolysaccharidosis Type 6
Kyphosis, Joint stiffness, Splenomegaly, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies ORPHA:583
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Absent ossification of thoracic... OMIM:601376
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Kyphosis, Rib fusion, Abnormal sternal ossification, Accessory splee... OMIM:194190
Robinow Syndrome
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar disloc... ORPHA:97360
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Long clavicles, Shoulder dislocation, Genu varum, Radioulnar synostosi... OMIM:171480
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2876
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Large fontanelles, ... ORPHA:436
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs OMIM:608940
3M Syndrome
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Congenit... ORPHA:2616
Cdags Syndrome
Kyphosis, Short clavicles, Short ribs, Coronal craniosynostosis, Delayed cranial suture closure, ... OMIM:603116
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification ORPHA:93298
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs OMIM:610319
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Hepatomegaly, Thin ribs, Hepatic hemangioma, Abnormal f... ORPHA:73230
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Stillbirth, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, S... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Pear-shaped vertebrae, Genu varum, ... OMIM:602111
Kniest-Like Dysplasia, Lethal
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Sh... OMIM:245190
Dyggve-Melchior-Clausen Disease
Prominent sternum, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Genu valgum,... OMIM:223800
Craniosynostosis 6
Delayed cranial suture closure, Scoliosis, Spina bifida occulta, Craniosynostosis OMIM:616602
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Wormian bones, H... OMIM:617821
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... ORPHA:96169
Shwachman-Diamond Syndrome 1
Narrow chest, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Persistence of hemogl... OMIM:260400
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... OMIM:215140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... OMIM:224300
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta, Bicoronal synostosis, Delayed closure of the anterior fontanelle... OMIM:618736
Pycnodysostosis
Narrow chest, Kyphosis, Abnormal clavicle morphology, Spondylolisthesis, Increased bone mineral d... ORPHA:763
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation ... ORPHA:90652
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Short ribs, Shallow acetabular fossae, Scoliosis, Carpa... OMIM:252600
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Recurrent fractures, ... OMIM:231070
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormality of mesentery morphology, Abnormally ossifie... ORPHA:2167
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Large posterior fontanelle, Coron... ORPHA:85199
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
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Otopalatodigital Syndrome, Type Ii
Narrow chest, Wide anterior fontanel, Pectus excavatum, Sclerosis of skull base, Short ribs, Spon... OMIM:304120
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... OMIM:607778
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... ORPHA:79345
Gapo Syndrome
Wide anterior fontanel, Hepatomegaly, Delayed cranial suture closure, Scoliosis, Bell-shaped thor... OMIM:230740
Coffin-Siris Syndrome 6
Kyphoscoliosis, Pectus excavatum, Wormian bones OMIM:617808
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the lower limbs, Broad clavicles, Abnormal form of the ... ORPHA:371428
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... ORPHA:3258
Premature Aging Syndrome, Penttinen Type
Osteopenia, Delayed cranial suture closure, Scoliosis, Wormian bones, Osteolytic defects of the p... OMIM:601812
Alagille Syndrome
Vertebral segmentation defect, Hepatomegaly, Reduced number of intrahepatic bile ducts, Abnormal ... ORPHA:52
Osteogenesis Imperfecta, Type I
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Osteopenia, Wormian bones, Incr... OMIM:166200
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed skeletal maturation, Limitation... ORPHA:3068
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Hemivertebrae, Cervical ribs, Metopic synostosi... ORPHA:500150
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... ORPHA:1452
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Hepatomegaly, Splenomegaly, Camptodactyly of... ORPHA:93473
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Death in infancy, Abnormal rib morphology ORPHA:1120
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Pectus carinatum, Hyperlordosis, Short thorax, Scapu... OMIM:612921
Lateral Meningocele Syndrome
Kyphosis, Pectus excavatum, Prominent metopic ridge, Short neck, Scoliosis, Abnormal form of the ... ORPHA:2789
Pycnodysostosis
Spondylolisthesis, Increased bone mineral density, Spondylolysis, Scoliosis, Wormian bones, Aplas... OMIM:265800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Flexion contracture, Delayed cranial suture closure, Scoliosis, Pectus carinatum, D... OMIM:619383
Osteogenesis Imperfecta, Type Xx
Narrow chest, Kyphoscoliosis, Asymmetry of the thorax, Wormian bones, Vertebral compression fract... OMIM:618644
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Delayed skeletal maturation, Neutropenia ORPHA:2643
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Death in infancy, Thin ribs ORPHA:163966
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles, Delayed cranial suture closure, Calvarial osteosclerosis, Delayed skel... ORPHA:93324
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Dysostosis, Stanescu Type
Kyphosis, Pectus excavatum, Increased bone mineral density, Short neck, Scoliosis, Wormian bones,... ORPHA:1798
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermob... OMIM:610443
Cutis Laxa, Autosomal Recessive, Type Iib
Pectus excavatum, Osteopenia, Congenital hip dislocation, Scoliosis, Wormian bones, Joint hypermo... OMIM:612940
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Wide anterior fontanel, Pectus excavatum, Genu recurvatum, Lateral clavic... OMIM:182212
Cartilage-Hair Hypoplasia
Hepatomegaly, Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus ... ORPHA:175
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Hemiver... ORPHA:958
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... ORPHA:2911
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Vacterl/Vater Association
Vertebral segmentation defect, Abnormality of the pancreas, Abnormal rib morphology, Abnormality ... ORPHA:887
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Pectus excavatum, Hepatomegaly, Accelerated skeletal maturation, H... ORPHA:373
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Asymmetry of the thorax, Osteopetrosis, Delayed cranial suture cl... ORPHA:2780
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... ORPHA:2769
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Joint dislocation, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophi... OMIM:618019
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Kyphoscoliosis, Metatarsal osteolysis, Osteopenia, Camptodactyly of toe, Wide cr... OMIM:259600
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Hepatic calcification, Osteomalacia, Abnormal calcification of the carp... ORPHA:51608
Trisomy 13
Narrow chest, Kyphosis, Abnormality of the fontanelles or cranial sutures, Scoliosis, Abnormal ri... ORPHA:3378
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Camptodactyly of finger, Short neck, Scoliosis, Abno... ORPHA:96061
Van Maldergem Syndrome 2
Narrow chest, Wide anterior fontanel, Short clavicles, Tracheomalacia, Osteopenia, Scoliosis, Wid... OMIM:615546
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Thin ribs, Flexion contracture, Scoliosis, Wide cranial sutures, Osteoporosis, P... OMIM:614008
Grant Syndrome
Down-sloping shoulders, Wormian bones OMIM:138930
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Butterfly vertebrae, Posterior rib fusion, Neonatal death, Asplenia OMIM:265380
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Platyspondyly, Broad clavicles, Pectus... OMIM:304150
Cleidocranial Dysplasia 1
Narrow chest, Kyphosis, Short clavicles, Spondylolisthesis, Increased bone mineral density, Short... OMIM:119600
Van Maldergem Syndrome 1
Narrow chest, Wide anterior fontanel, Short clavicles, Tracheomalacia, Osteopenia, Scoliosis, Wid... OMIM:601390
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... OMIM:250420
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Delayed cr... ORPHA:83
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Cubitus valgus, Joint hyp... OMIM:114620
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... OMIM:224690
Cantú Syndrome
Narrow chest, Accelerated skeletal maturation, Platyspondyly, Short neck, Osteoporosis, Broad rib... ORPHA:1517
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Neonatal death, Short neck, Missing ribs OMIM:619859
Occipital Horn Syndrome
Pectus excavatum, Osteopenia, Platyspondyly, Down-sloping shoulders, Pectus carinatum, Cholestasi... ORPHA:198
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... OMIM:227330
Otofacioosseous-Gonadal Syndrome
Narrow chest, Carpal synostosis, Pectus excavatum, Wormian bones, Genu valgum, Delayed skeletal m... OMIM:601976
Mucopolysaccharidosis, Type Vi
Avascular necrosis, Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Hyp... OMIM:253200
Microcephaly-Micromelia Syndrome
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis OMIM:251230
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Prolonged neonatal jaundice, Large posterior fontanelle, Delayed ... ORPHA:95717
X-Linked Hypophosphatemia
Limitation of joint mobility, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Ge... ORPHA:89936
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed skeletal maturation, Anemia, Congenital hip dislocation, Wormian bones OMIM:614450
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, Stiff neck OMIM:617022
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Rachitic rosary, Wide cranial sutures, Enlargement... ORPHA:289157
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatomegaly, Hepatoblastoma, ... ORPHA:96334
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Wide anterior fontanel, Short ribs, Large posterior fontanelle, Decreased calvarial... OMIM:617925
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Joint contracture of the hand, Craniosynostosis, Delayed cranial... OMIM:175700
Frank-Ter Haar Syndrome
Kyphosis, Kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Osteopenia, Delayed cranial s... OMIM:249420
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow ORPHA:3015
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Radioulnar synostosis, Metacarpal synostosis, Flexion contract... ORPHA:95699
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Abnormal rib morphology, Patellar aplasia, Delayed... OMIM:617604
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Prominent metopic ridge, Camptodactyly of finger, Scoliosis, Abnormal... ORPHA:2215
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Pectus excavatum, Long clavicles, Osteopenia, Osteoporosis, Wormian bones, Arthritis, Osteolytic ... OMIM:259100
Melnick-Needles Syndrome
Narrow chest, Kyphoscoliosis, Pectus excavatum, Short clavicles, Delayed cranial suture closure, ... OMIM:309350
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Hepati... ORPHA:1163
Potocki-Shaffer Syndrome
Wormian bones OMIM:601224
Hajdu-Cheney Syndrome
Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Cervical instability, Osteopenia, S... OMIM:102500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Platyspondyly, Abnorm... ORPHA:93317
Osteogenesis Imperfecta
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Thoracic... ORPHA:666
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis ORPHA:1300
Diamond-Blackfan Anemia 1
Narrow chest, Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemia, Delayed cranial sut... OMIM:105650
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Myhre Syndrome
Joint stiffness, Platyspondyly, Enlarged vertebral pedicles, Short neck, Camptodactyly, Broad rib... OMIM:139210
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Abnormality of the vertebral column,... ORPHA:77301
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Wormian bones, Craniosynostosis OMIM:601853
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Increased sus... ORPHA:357058
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Pancreatic fibrosis, Platyspondyly, Pectus carin... OMIM:263520
Kyphomelic Dysplasia
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Pterygium, Flat... OMIM:211350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ge... OMIM:271640
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Wormian bones, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Wormian bones, Pathologic fracture ORPHA:166277
Aymé-Gripp Syndrome
Craniosynostosis, Delayed cranial suture closure, Prominent metopic ridge, Scoliosis, Radioulnar ... ORPHA:1272
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Delayed cranial suture closure, Elbow dislocation, Large fontanelles ORPHA:2249
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae, Distal arthrogryposis, Radial head subluxation, Hip dislocation ORPHA:672
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Wormian bones ORPHA:2863
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hajdu-Cheney Syndrome
Kyphosis, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Short neck, Biconcave vert... ORPHA:955
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Dubowitz Syndrome
Wide anterior fontanel, Pectus excavatum, Craniosynostosis, Delayed cranial suture closure, Scoli... ORPHA:235
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... ORPHA:3003
Mandibuloacral Dysplasia With Type A Lipodystrophy
Joint stiffness, Short clavicles, Hepatomegaly, Flexion contracture, Osteopenia, Delayed cranial ... OMIM:248370
Parietal Foramina 1
Wormian bones OMIM:168500
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Flexion contracture, Delayed cranial suture closure, Acroosteolysis of distal ph... OMIM:608612
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Saethre-Chotzen Syndrome
Craniosynostosis, Proximal radio-ulnar synostosis, Delayed cranial suture closure, Scoliosis, Abn... ORPHA:794
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Short ribs, Polycystic liver disease, Pancreatic fibrosis, Early ossification of ca... OMIM:208500
Ogden Syndrome
Delayed cranial suture closure, Scoliosis ORPHA:276432
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Hyperextensibility of the finger joints, Delayed cranial suture ... OMIM:151050
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Scoliosis, Wormian bon... OMIM:234100
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Widely patent fontanelles and sutures, Short sternum, Hepatoblastoma, Lo... OMIM:269150
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Hip dislocation, Delayed cranial suture closure, Wormian bones OMIM:616603
Camptodactyly Syndrome, Guadalajara, Type I
Delayed skeletal maturation, Lumbar hyperlordosis, Pectus excavatum, Horizontal sacrum, Camptodac... OMIM:211910
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Hemivertebrae, Hypoplastic scapulae... OMIM:200980
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Pectus excavatum, Hepatomegaly, Thin ribs, Flexion contracture, Osteopenia, Dela... OMIM:619127
Hunter-Macdonald Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Scoliosis, Pectus carinatum, Campt... OMIM:611962
Schinzel-Giedion Syndrome
Annular pancreas, Kyphoscoliosis, Abnormal clavicle morphology, Wide anterior fontanel, Sclerosis... ORPHA:798
D-Bifunctional Protein Deficiency
Pectus excavatum, Hepatomegaly, Splenomegaly, Osteopenia, Delayed cranial suture closure, Cholest... OMIM:261515
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Prolonged neonatal jaundice, Large posterior fontanelle, Delayed ... ORPHA:95716
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Menkes Disease
Wormian bones, Death in childhood, Joint laxity, Osteoporosis OMIM:309400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Tenorio Syndrome
Osteopenia, Scoliosis, Delayed cranial suture closure OMIM:616260
Mohr Syndrome
Pectus excavatum, Scoliosis, Wormian bones OMIM:252100
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Scoliosis, Osteomalacia, Patholog... ORPHA:249
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Dislocation of the femoral head, Hip contracture, Kyphoscoliosis, Delayed cranial suture closure,... OMIM:210730
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... OMIM:250220
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Wrinkly Skin Syndrome
Kyphosis, Wide anterior fontanel, Pectus excavatum, Osteopenia, Delayed cranial suture closure, C... OMIM:278250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Lymphopenia, Craniosynostosis, Delayed cranial suture closure,... OMIM:620005
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Baraitser-Winter Cerebrofrontofacial Syndrome
Joint stiffness, Delayed cranial suture closure, Prominent metopic ridge, Short neck, Scoliosis, ... ORPHA:2995
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Marshall-Smith Syndrome
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Pectus excavatum, Atlantoaxial dislocation, Short s... OMIM:602535
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal clavicle morphology, Hepatomegaly, Flexion contracture, Reduced bone mi... ORPHA:581
Lowry-Maclean Syndrome
Widely patent coronal suture, Abnormality of the abdominal organs, Craniosynostosis, Osteopenia, ... ORPHA:2409
De Barsy Syndrome
Kyphoscoliosis, Pectus excavatum, Generalized joint laxity, Osteopenia, Congenital hip dislocatio... ORPHA:2962
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:2