Gene Summary

Name:
mbt domain containing 1
Synonyms:
hemp

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 circulating LDL cholesterol level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 7.12×10-06
increased circulating alanine transaminase level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 9.45×10-06
increased lactate dehydrogenase level Mbtd1tm2a(EUCOMM)Wtsi HET Early adult 2.66×10-05

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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 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 0.68% (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.

Legacy Phenotype Associated Images

View all 67 images

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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Rib fusion, Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Missing ribs, Abnormality of the odont... OMIM:613686
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Low back pain, Pectus carinatum, Hemivertebrae, Vert... OMIM:122600
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Prominent occiput, Sp... ORPHA:1797
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Midface retrusion, Sprengel anomaly, Rib fusion, Hemivertebrae, Brachyce... ORPHA:1394
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Frontal bossing OMIM:108450
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Broad ribs, Joint swelling, Flaring of rib cage, Hepatomegaly, Splenomegaly, Neutroph... OMIM:612852
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Carpal syn... OMIM:157800
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Frontal bossing, Abnormal sternum morphology, Sp... OMIM:109400
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Beaded ribs, Decreased calva... OMIM:259440
Femoral-Facial Syndrome
Scoliosis, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Abnormality of the ribs, Vertebra... ORPHA:1988
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, D... ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Kniest Dysplasia
Platyspondyly, Short thorax, Enlarged joints, Flexion contracture of finger, Coronal cleft verteb... ORPHA:485
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
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Atelosteogenesis, Type I
Coronal cleft vertebrae, Stillbirth, Elbow dislocation, Midface retrusion, Frontal bossing, Narro... OMIM:108720
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Death in infancy, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Camptodactyly, Hemivertebrae, Vertebral fusion, Delay... OMIM:113000
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Beaking of vertebral bodies, Rib ... OMIM:213980
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Plagiocephaly, Block vertebrae, Supernumerary ribs, Missing ri... ORPHA:50
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Thrombocytopenia, Aplasia/Hypoplasia of the patella, Cervical ribs, Hip dislocation, G... ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Short neck, Arthrogryposis mul... OMIM:178110
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Posterior rib fusion, Hemivertebrae OMIM:608406
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Biconcave... OMIM:259420
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Pycnodysostosis
Scoliosis, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Frontal bossing... OMIM:265800
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary ribs, Missing ri... OMIM:304050
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Frontal bossing, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary... OMIM:206900
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ro... OMIM:609052
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Plagiocephaly, Spina bifida occulta, Fused cervical vertebrae... OMIM:619227
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Platybasia, Abnormal joint morphology, Moderate generalized osteoporosis, Biconcav... OMIM:166230
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Osteoporosis, Midface retrusion, Pectus carinatum, Generalized osteopor... OMIM:613849
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Leukocytosis, Pancreatic cysts, Carpal bone hypoplasia, Abnormal shoulder ... OMIM:274000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Frontal bossing, Large fontanelles, Platybasia, Narr... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Abnormal vertebral morphology, Midface retrusion, Platybasia, Rib fu... ORPHA:261197
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Abnormal bone ossification, Anisospondyly, Wide anterior fontanel, Frontal bossing... ORPHA:163649
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Pycnodysostosis
Hyperlordosis, Wormian bones, Abnormal clavicle morphology, Osteolysis, Abnormality of the verteb... ORPHA:763
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Osteogenesis Imperfecta, Type V
Platyspondyly, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Multiple pterygia, Camptodactyly of finger, Axillary pterygium, Arthrogryposis multipl... ORPHA:2990
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Wide anterior fontanel, Frontal bossing, Midface retrusion, Pectus... OMIM:268310
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Cloverleaf skull, Short ribs, N... OMIM:187601
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Craniofacial asymmetry, Vertebral segm... ORPHA:1724
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... OMIM:618395
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, Frontal bossing, Pectus carinatum, Lumbar hyperlordosis, Vert... ORPHA:313892
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Frontal bossing, Midface retrusion, Hepatic steatosis, Kyphos... ORPHA:1606
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Narrow che... OMIM:269250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Thin calvarium, Increased bone mineral density... ORPHA:85184
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Wide anterior fontanel, Stil... OMIM:228520
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Platyspondyly, Wormian bones, Joint hypermobility, Osteoporosis, Pectus excavatum, Bel... OMIM:619131
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, Narrow chest... ORPHA:2097
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae, Neutropenia OMIM:609053
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Ky... OMIM:616294
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Large fontanelles, Beaded ribs, Absent ossification of calvaria, Re... OMIM:166210
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteoporosis, Delayed closure of the anterior fontanelle, Osteolytic defects of the di... OMIM:614008
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wormian bones, Wide anterior fontanel, Joint laxity, Kyphosis, Recurren... OMIM:610915
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Dislocated radial head, Wormian bones, Joint hypermobility, Osteoporosi... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Genu valgum, Synostosis of carpal bones, Pectus carinatum, Abnormal ... ORPHA:93351
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Choleli... ORPHA:83617
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Bruck Syndrome 2
Platyspondyly, Wormian bones, Pectus carinatum, Flexion contracture, Pterygium, Increased suscept... OMIM:609220
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Wide anterior fontanel, Abnormal form of the vertebral bodie... ORPHA:2021
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth, Platybasia, Pectus carinatum, Decreased calvarial ossification, Pectus... OMIM:259410
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Pectus carinatum, Capita... OMIM:271650
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Frontal bossing, Abnormal form of the vertebral bodies, Midface retrusi... ORPHA:2050
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Abnormal vertebral morphology, Sagittal craniosynostosis,... OMIM:218600
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Narrow chest, Decreased ca... OMIM:610682
Apert Syndrome
Large fontanelles, Frontal bossing, Midface retrusion, Cloverleaf skull, Acrobrachycephaly, Brach... ORPHA:87
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Frontal bossing, Thoracic hypoplasia, Cupped ribs, Delayed skeletal maturation ORPHA:168549
Hao-Fountain Syndrome
Delayed cranial suture closure, Trigonocephaly, Large fontanelles OMIM:616863
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Wormian bones, Cubitus valgus, Broad ribs, Wide anterior fontanel, Genu v... OMIM:269300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Exocrine pancreatic insufficiency, Generalized joint laxity, Thoracic kyp... ORPHA:508498
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormality of mesentery morphology, Abnormality of the spleen, Abnormal... ORPHA:93941
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Dense calvaria, Hepatomegaly, Ovoid thoracolumbar vertebrae, Joint stiffness, Spl... OMIM:252900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Frontal bossing, Large fontanelles, Narrow chest, Dysplastic sacrum, Bell-shaped t... OMIM:613320
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Platybasia, Kyphosis, ... OMIM:130720
Gorlin Syndrome
Scoliosis, Frontal bossing, Hemivertebrae, Vertebral fusion, Brachycephaly, Vertebral wedging ORPHA:377
Thanatophoric Dysplasia, Type I
Frontal bossing, Narrow chest, Wide-cupped costochondral junctions, Cloverleaf skull, Short ribs,... OMIM:187600
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Wormian bones, Abnormality of the knee, Foot acroosteolysis, Osteolysis, Reduced b... ORPHA:970
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Cog1-Cdg
Irregularity of vertebral bodies, Short neck, Posterior rib gap, Rib fusion, Flat acetabular roof... ORPHA:263508
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis, Large fontanelles, Pectus excavatum, Flat occiput, Delayed cranial sutu... ORPHA:2511
Wolf-Hirschhorn Syndrome
Scoliosis, Osteoporosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abno... ORPHA:280
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormality... ORPHA:1486
Apert Syndrome
Humeroradial synostosis, Large fontanelles, Synostosis of carpal bones, Midface retrusion, Delaye... OMIM:101200
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Bruck Syndrome
Scoliosis, Platyspondyly, Wormian bones, Osteoporosis, Arthrogryposis multiplex congenita, Kyphos... ORPHA:2771
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Pectus excavatum, Hemivertebrae, Vertebral fus... OMIM:263540
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Wormian bones OMIM:601356
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Craniofacial hyperostosis, Frontal bossing ORPHA:1513
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... OMIM:609616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Midface retrusion, Thoraci... OMIM:300232
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Short neck, Vacuolated lymphocytes, Frontal bossing, Beaking of verteb... OMIM:230500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Dolichoc... ORPHA:2475
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Frontal bossing, Narrow chest, Craniofacial hyperostosis,... ORPHA:2484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Short ribs, Severe... OMIM:151210
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Prominent sternum, Joint laxity, Osteoporos... OMIM:253000
Dyssegmental Dysplasia, Silverman-Handmaker Type
Calvarial skull defect, Thoracic hypoplasia, Neonatal death, Anisospondyly OMIM:224410
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormality of the elbow, Abnorm... ORPHA:2319
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Hepatomegaly, Ovoid thoracolumbar vertebrae, Joint stiffness, Spl... OMIM:252930
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Pectus excavatum, Hemivertebrae OMIM:604919
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Midface retrusion, Camptodactyly, Thrombocytopenia, Anemia, Abnormality of the ribs, O... OMIM:611209
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Thickened calvaria, Increased bone mineral density... ORPHA:90650
Mosaic Trisomy 14
Camptodactyly of finger, Frontal bossing, Narrow chest, Abnormality of the ribs, Short neck ORPHA:1703
Cdags Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Kyphosis, Parietal foramina, Sag... OMIM:603116
Craniosynostosis 6
Scoliosis, Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina ... OMIM:616602
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Genu valgum, Delayed pubic bone os... OMIM:184250
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Campomelia, Cumming Type
Pancreatic cysts, Death in infancy, Abnormal thorax morphology, Hepatomegaly, Abnormally ossified... ORPHA:1318
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Hepatomegaly, Ovoid thoracolumbar vertebrae, Joint stiffness, Spl... OMIM:252920
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Death in infancy, ... OMIM:241500
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Frontal bossing, Joint hyperflexibility, Reduced bone mineral... ORPHA:1488
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Prominent sternum, Joint laxity, Osteoporos... OMIM:253010
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Femoral-Facial Syndrome
Scoliosis, Humeroradial synostosis, Radioulnar synostosis, Sprengel anomaly, Dysplastic sacrum, R... OMIM:134780
Craniofaciofrontodigital Syndrome
Frontal bossing, Narrow chest, Hepatomegaly, Abnormality of the ribs, Abnormal shoulder morpholog... ORPHA:363705
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Short thorax, Pectus carinatum, Joint hyper... ORPHA:582
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Abnormality o... ORPHA:915
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Frontal bossing, Midface retrusion, Kyphosis, F... OMIM:617140
Distal Monosomy 17Q
Hepatomegaly, Short thorax, Prominent metopic ridge, Abnormal form of the vertebral bodies ORPHA:1597
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anterior fon... OMIM:607872
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Joint hyperflexibility, Frontal bossing ORPHA:2787
Achondrogenesis, Type Ia
Short neck, Abnormal hand bone ossification, Stillbirth, Barrel-shaped chest, Beaded ribs, Hypopl... OMIM:200600
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Absent ossification of ca... OMIM:601376
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Short thorax, Tarsal synostosis, Wide anterior fontanel, Frontal bo... ORPHA:85199
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Pectus excavatum, Camptodactyly, H... OMIM:617137
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Frontal bossing, Elbow dislocation, Synostosis of carpal bone... ORPHA:1507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Achondrogenesis Type 1B
Short thorax, Frontal bossing, Narrow chest, Abnormal enchondral ossification, Abnormality of the... ORPHA:93298
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Wide anterior fontanel, Frontal bossing, Narrow chest, Short neck, Prominent metop... OMIM:614541
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Frontal bossing, Flexion contracture, Hepatomegaly, Ovoid thoracolumbar vertebrae... OMIM:252940
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, ... OMIM:616897
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Short neck, Large fontanelles ORPHA:1832
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Frontal bossing, Thin ribs, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Short neck, Wide anterior fontanel, Coronal cleft vertebrae,... ORPHA:2347
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Neonatal death, Hip dislocation OMIM:146510
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal... ORPHA:1834
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Frontal b... OMIM:272460
Pseudoachondroplasia
Scoliosis, Platyspondyly, Limited elbow extension, Irregular carpal bones, Genu valgum, Joint lax... OMIM:177170
Mucopolysaccharidosis, Type Vi
Genu valgum, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Dolichocephaly, Anterior wedg... OMIM:253200
Robinow Syndrome
Scoliosis, Frontal bossing, Radioulnar dislocation, Midface retrusion, Rib fusion, Fused thoracic... ORPHA:97360
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Limited elbow extension, Platyspondyly, Genu valgum, Short neck, Broad ... ORPHA:239
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Midface retrusion, Shoulder disl... OMIM:171480
Achondrogenesis, Type Ii
Stillbirth, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest OMIM:200610
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput,... OMIM:618736
Holzgreve Syndrome
Abnormality of mesentery morphology, Abnormally ossified vertebrae, Joint stiffness, Abnormality ... ORPHA:2167
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... OMIM:253310
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Large fontanelles, Frontal bossing, Flat occiput, Thickened calvaria, O... ORPHA:2780
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Premature Aging Syndrome, Penttinen Type
Scoliosis, Wormian bones, Thin calvarium, Midface retrusion, Osteolytic defects of the phalanges ... OMIM:601812
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Flat acetabula... OMIM:223800
Wolf-Hirschhorn Syndrome
Scoliosis, Accessory spleen, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnorm... OMIM:194190
Osteogenesis Imperfecta, Type Xx
Wormian bones, Narrow chest, Midface retrusion, Plagiocephaly, Asymmetry of the thorax, Brachycep... OMIM:618644
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Craniosynostosis-Fibular Aplasia Syndrome
Wormian bones, Large fontanelles, Midface retrusion, Abnormal sternum morphology, Sacral dimple, ... ORPHA:1533
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Fr... OMIM:224300
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Splenomegaly, Short neck ORPHA:583
Alagille Syndrome
Reduced number of intrahepatic bile ducts, Abnormal form of the vertebral bodies, Frontal bossing... ORPHA:52
Hypophosphatasia
Craniosynostosis, Narrow chest, Large fontanelles, Recurrent fractures, Anemia, Abnormality of th... ORPHA:436
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Joint stiffness, Cupped ribs OMIM:608940
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Frontal bossing, Pectus carinatum, Thin ribs, Lumb... OMIM:612921
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Greenberg Dysplasia
Epiphyseal stippling, Narrow chest, Abnormal scapula morphology, Abnormal pelvis bone ossificatio... OMIM:215140
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Large fontanelles, Elbow dislocation, Syno... ORPHA:90652
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Delayed closure of the anterior fontanelle, Wormian bones, Nonossified fifth metat... OMIM:304120
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Joint laxity, Midface retrusion,... OMIM:613848
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Frontal bossing, Pectus carinatum, Kyphosis, Abnormality of the ribs, Short neck ORPHA:3082
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Genu valgum, Osteoporosis, Large fontanelles, Frontal bossing, Midface ... ORPHA:1452
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnorma... ORPHA:3068
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Elevated hepatic transaminase, Lar... ORPHA:73230
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Death in infancy, Frontal bossing ORPHA:163966
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Cutis Laxa, Autosomal Recessive, Type Iiia
Scoliosis, Wormian bones, Joint hypermobility, Congenital hip dislocation, Large fontanelles, Fro... OMIM:219150
Coffin-Siris Syndrome 6
Wormian bones, Frontal bossing, Pectus excavatum, Plagiocephaly, Kyphoscoliosis OMIM:617808
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Limited elbow extension, Irregular sclerotic endplates, Flared, irregular rib ends... OMIM:602111
Kniest-Like Dysplasia, Lethal
Platyspondyly, Short neck, Broad ribs, Wide anterior fontanel, Coronal cleft vertebrae, Narrow ch... OMIM:245190
Gapo Syndrome
Scoliosis, Joint hypermobility, Wide anterior fontanel, Frontal bossing, Bell-shaped thorax, Hepa... OMIM:230740
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Wormian bones, Hyperlordosis, Joint hypermobility, Kyphosis, Hip dislocation, Joint su... OMIM:617821
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Persisten... OMIM:260400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Sclerotic cranial sutures, Osteolysis, Abnormal form of the vertebral bodies, Osteo... ORPHA:371428
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Hyperlordosis, Abnormal form of the vertebral bodies, Craniofacial hype... ORPHA:2789
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Craniosynostosis, Frontal bossing, Camptodactyly of toe, Abnorma... OMIM:175700
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Delayed pubic bone ossification, Frontal bossing, Narrow chest, Midface... OMIM:119600
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Midface retrusion, Pectus excavatum, Six lumbar vertebrae,... OMIM:619122
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Hyperlordosis, Midface retrusion, Persistent open anterior fontanelle, ... ORPHA:1798
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Limited elbow movement, Abnorma... ORPHA:85167
Cenani-Lenz Syndrome
Scoliosis, Radioulnar synostosis, Frontal bossing, Elbow dislocation, Abnormal form of the verteb... ORPHA:3258
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Frontal bossing, Narrow chest, Elbow ankylosis, Recurr... ORPHA:83
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Recurrent fractures, Increased susceptibility t... OMIM:166200
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Delayed epiphyseal ossification, Frontal bossing, Rickets, Flat occipu... OMIM:600081
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
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Interphalangeal joint contract... OMIM:259600
Pituitary Hormone Deficiency, Combined, 1
Frontal bossing, Midface retrusion, Prolonged neonatal jaundice, Jaundice, Delayed cranial suture... OMIM:613038
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Delayed ossification of carpal bones, Ovoid vertebral ... OMIM:607778
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Genu valgum, Dislocated radial head, Craniosynostosis, C1-C2 vertebral abnormality, Wi... OMIM:182212
Hurler Syndrome
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormal vertebral morphology, ... ORPHA:93473
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Abnormality of the ribs, Vertebral segme... ORPHA:2970
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Otofacioosseous-Gonadal Syndrome
Wormian bones, Genu valgum, Frontal bossing, Narrow chest, Pectus excavatum, Brachycephaly, Carpa... OMIM:601976
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide anterior fontanel, Thora... OMIM:114290
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Atlantoaxial instability, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Frontal bossing, Narrow c... ORPHA:96061
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Frontal bossing, Sagittal craniosynostosis, Rib... ORPHA:500150
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Frontal bossing ORPHA:1506
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Craniosynostosis, Brachycephaly, Turricephaly ORPHA:2145
Kagami-Ogata Syndrome
Frontal bossing, Flexion contracture, Bell-shaped thorax, Hepatomegaly, Thin ribs, Splenomegaly, ... OMIM:608149
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Hyperlordosis, Joint hypermobility, Frontal bossing, Thin calvarium, Pl... OMIM:234100
Frank-Ter Haar Syndrome
Osteoporosis, Wormian bones, Wide anterior fontanel, Kyphosis, Pectus excavatum, Flat occiput, Ca... OMIM:249420
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Brachycephaly, Turricephaly OMIM:601224
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Craniosynostosis, Plagiocephaly, Thin ribs, Trigonocephaly OMIM:618265
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Neutropenia, Anemia, Abnormality of the... ORPHA:175
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Delayed cranial suture closure, Decreased skull ossification, Calvarial osteosclerosis... ORPHA:93324
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Scoliosis, Pectus carinatum, Flexion contracture, Flat occiput, Plagiocephaly, Hepatomegaly, Dela... OMIM:619383
Craniofaciofrontodigital Syndrome
Cubitus valgus, Joint hypermobility, Short neck, Broad ribs, Frontal bossing, Pectus excavatum, H... OMIM:114620
Menkes Disease
Osteoporosis, Wormian bones, Joint laxity, Death in childhood, Brachycephaly OMIM:309400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Abnormal vertebral morphology, Plagiocephaly, Cervical C2/C3 vert... ORPHA:444077
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Delayed skeletal maturation, Neutropenia ORPHA:2643
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly, Short ribs,... ORPHA:2911
Trisomy 13
Scoliosis, Narrow chest, Calvarial skull defect, Kyphosis, Abnormality of the fontanelles or cran... ORPHA:3378
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Sclerosteosis 1
Broad ribs, Frontal bossing, Midface retrusion, Sclerotic vertebral endplates, Broad clavicles, F... OMIM:269500
Vacterl/Vater Association
Large fontanelles, Abnormality of the pancreas, Abnormality of the intervertebral disk, Abnormali... ORPHA:887
Simpson-Golabi-Behmel Syndrome
Scoliosis, Camptodactyly of finger, Accelerated skeletal maturation, Congenital hip dislocation, ... ORPHA:373
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Hypoplasti... ORPHA:958
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Van Maldergem Syndrome 2
Scoliosis, Wide anterior fontanel, Narrow chest, Joint laxity, Midface retrusion, Sacral dimple, ... OMIM:615546
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Vertebral segmentation defect, Death in infancy ORPHA:1120
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Grant Syndrome
Wormian bones, Down-sloping shoulders OMIM:138930
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Pectus excavatum, Down-sloping shoulders, Camptodactyly, Vertebral f... OMIM:227330
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Sacral dimple, Spondylolisthesis, Ver... OMIM:610443
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Delayed epiphyseal ossification, Frontal bossing, Rickets, Flat occipu... ORPHA:289157
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Skull asymmetry, Brac... OMIM:601853
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Extramedullary hemato... ORPHA:313855
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Wide anterior fontanel, Frontal bossing, Narrow chest, Large posterior fon... OMIM:617925
Van Maldergem Syndrome 1
Scoliosis, Wide anterior fontanel, Narrow chest, Joint laxity, Midface retrusion, Sacral dimple, ... OMIM:601390
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnorm... ORPHA:93317
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Genu valgum, Broad ribs, Narrow chest, Join... OMIM:304150
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Frontal bossing, Rickets, Beaded ribs,... ORPHA:89936
Occipital Horn Syndrome
Scoliosis, Large fontanelles, Narrow chest, Jaundice, Aplastic clavicle, Osteoporosis, Genu valgu... ORPHA:198
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ... ORPHA:95717
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Genu valgum, Joint laxity, Carpal bone hypoplasia, Short ribs, Lumbar hyperlordosis, I... OMIM:250420
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Midface retrusion, Kyphos... ORPHA:2215
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis, Narrow chest, Abnormality of the ribs, Short neck OMIM:251230
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abnormality of the r... ORPHA:95699
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Death in infancy... ORPHA:800
Hypertrichotic Osteochondrodysplasia, Cantu Type
Accelerated skeletal maturation, Platyspondyly, Osteoporosis, Broad ribs, Narrow chest, Ovoid ver... ORPHA:1517
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Small anterior fontanelle, ... OMIM:224690
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Delayed skeletal maturation, Congenital hip dislocation, Anemia OMIM:614450
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Wormian bones, Large fontanelles, Pectus excavatum, Thickened calvaria, Osteolytic ... OMIM:259100
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin ribs, Anemia, Decreased skull ossification, Calv... OMIM:244460
Myhre Syndrome
Platyspondyly, Broad ribs, Midface retrusion, Camptodactyly, Thickened calvaria, Enlarged vertebr... OMIM:139210
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dolichocephaly, Pathologic fracture, Limitation of joint mobility ORPHA:166277
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly... ORPHA:96334
Lethal Congenital Contracture Syndrome 10
Broad ribs, Narrow chest, Hypoplasia of the thymus, Stiff neck, Short neck, Thoracic scoliosis OMIM:617022
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Joint hypermobility, Large fontanelles, Narrow chest, Bone pain, Increa... ORPHA:666
Aymé-Gripp Syndrome
Scoliosis, Craniosynostosis, Radioulnar synostosis, Large fontanelles, Camptodactyly, Abnormal th... ORPHA:1272
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Craniofacial hyperostosis, Horizontal r... ORPHA:3003
Renpenning Syndrome
Abnormality of the ribs, Pectus excavatum, Sprengel anomaly, Joint stiffness ORPHA:3242
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Hypoplastic coccygeal vertebrae, Nar... OMIM:105650
Monosomy 9Q22.3
Accelerated skeletal maturation, Abnormality of the vertebral column, Joint hyperflexibility, Kyp... ORPHA:77301
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs... OMIM:263520
Radio-Renal Syndrome
Abnormality of the ribs, Abnormality of the elbow, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Hajdu-Cheney Syndrome
Foot acroosteolysis, Wormian bones, Genu valgum, Dislocated radial head, Osteoporosis, Joint laxi... OMIM:102500
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Wormian bones, Joint laxity, Frontal bossing, Increased susceptibility to fractures... ORPHA:2788
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Stillbirth, Narrow chest, Pectus excavatum, Hypoplastic sca... OMIM:309350
Saethre-Chotzen Syndrome
Scoliosis, Hyperlordosis, Craniosynostosis, Abnormal form of the vertebral bodies, Plagiocephaly,... ORPHA:794
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Patellar aplasia, Abnormality of the ribs, Delayed... OMIM:617604
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Wormian bones, Osteoporosis, Osteolysis, Biconcave v... ORPHA:955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Neonatal death, Asplenia, Brachycephaly, Annular pancreas, Butterfly vertebrae OMIM:265380
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormality of the ribs, Popliteal pterygium, Joint stiffness ORPHA:1300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Acrorenal-Mandibular Syndrome
Narrow chest, Hypoplastic scapulae, Hemivertebrae, Thin ribs, Abnormal sacral segmentation, Hip d... OMIM:200980
Aspergillosis
Abnormality of the vertebral column, Neutropenia, Hepatitis, Abnormality of the ribs, Osteomyelit... ORPHA:1163
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Joint laxity, Ovoid vertebral bodies, Pathologic fracture, Advanced ossification... OMIM:271640
Kagami-Ogata Syndrome
Frontal bossing, Thoracic hypoplasia, Bell-shaped thorax, Coat hanger sign of ribs, Kyphoscoliosi... ORPHA:254519
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hunter-Macdonald Syndrome
Scoliosis, Cubitus valgus, Large fontanelles, Midface retrusion, Pectus carinatum, Camptodactyly,... OMIM:611962
Ulna Hypoplasia-Intellectual Disability Syndrome
Delayed cranial suture closure, Joint stiffness, Large fontanelles, Elbow dislocation ORPHA:2249
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Cubitus valgus, Scapular winging, Midface retrus... OMIM:211910
Cranioectodermal Dysplasia 2
Craniosynostosis, Joint laxity, Narrow chest, Horizontal ribs, Bile duct proliferation, Short nec... OMIM:613610
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wormian bones, Camptodactyly of finger ORPHA:2863
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Flat acetabular ... OMIM:211350
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Elevated hepatic transaminase, Frontal bossing, Elevated hemoglobin A1c, Pectus exca... OMIM:619127
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Pallister-Hall Syndrome
Rib fusion, Radial head subluxation, Hemivertebrae, Distal arthrogryposis, Trigonocephaly, Hip di... ORPHA:672
Ogden Syndrome
Scoliosis, Delayed cranial suture closure, Frontal bossing ORPHA:276432
Dubowitz Syndrome
Scoliosis, Craniosynostosis, Wide anterior fontanel, Abnormality of neutrophils, Joint hyperflexi... ORPHA:235
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Sacrococcygeal teratoma, Broad ribs, Metopic sutu... OMIM:269150
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Plagiocephaly, Abnormal vertebral segmentat... ORPHA:233
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Large fontanelles, Frontal bossing, Hepatic steatosis, Pectus exca... OMIM:261515
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Autosomal Recessive Cutis Laxa Type 2A
Joint hypermobility, Congenital hip dislocation, Wide anterior fontanel, Frontal bossing, Persist... ORPHA:357058
Fibrous Dysplasia Of Bone
Scoliosis, Abnormal clavicle morphology, Osteolysis, Patchy reduction of bone mineral density, Ri... ORPHA:249
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Broad ribs, Large fontanelles, Frontal bossing, Proximal symphalangism o... OMIM:151050
Schinzel-Giedion Syndrome
Scoliosis, Myeloid leukemia, Wormian bones, Sacrococcygeal teratoma, Abnormal clavicle morphology... ORPHA:798
Weill-Marchesani Syndrome 1
Scoliosis, Broad skull, Broad ribs, Lumbar hyperlordosis, Joint stiffness, Brachycephaly, Spinal ... OMIM:277600
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Scoliosis, Arthrogryposis multiplex congenita, Joint laxity, Large fontanelles, Generalized joint... OMIM:601776
Laron Syndrome
Hypercholesterolemia ORPHA:633
Wrinkly Skin Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Scapular winging, Congenital hip dislocation, Wide... OMIM:278250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Large posterior fontanelle, Horizontal inferior border of scapula, S... OMIM:250220
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Large fontanelles, Joint hyperflexibility, Kyphosis, Thickened calvaria, Elbow ankylos... ORPHA:2658
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Pancreatic cysts, Polycystic liver disease, Horizontal ribs,... OMIM:208500
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Scaphocephaly, Frontal bossing, Plagiocephaly OMIM:619149
Charcot-Marie-Tooth Disease Type 4C
Scapular winging, Abnormality of the vertebral column, Vertebral fusion, Thoracic scoliosis, Ankl... ORPHA:99949
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ... ORPHA:95716
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Hip dislocation, Delayed cranial suture closure, Osteopenia OMIM:616603
Tenorio Syndrome
Scoliosis, Osteopenia, Delayed cranial suture closure OMIM:616260
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Pectus carinatum, Severe generalized osteoporosis, Dysharmonic delayed bone age, Delayed cranial ... OMIM:210730
Mohr Syndrome
Scoliosis, Wormian bones, Pectus excavatum OMIM:252100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:608612
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Widely patent coronal suture, Small anterior fontanelle, Trigonoc... ORPHA:2409
Mucopolysaccharidosis Type 3
Scoliosis, Genu valgum, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Cran... ORPHA:581
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Calvarial skull defect, Missing ribs, Congenital hip dislocation ORPHA:1647
Silver-Russell Syndrome 1
Hepatocellular carcinoma, Delayed cranial suture closure, Delayed skeletal maturation, Frontal bo... OMIM:180860
De Barsy Syndrome
Wormian bones, Delayed closure of the anterior fontanelle, Congenital hip dislocation, Generalize... ORPHA:2962
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome