Gene Summary

Name:
ankyrin repeat domain 11
Synonyms:
3010027A04Rik,  9530048I21Rik,  2410104C19Rik,  Yod

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 bone mineral content Ankrd11Yod HET Early adult 5.52×10-09
abnormal vitreous body morphology Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 6.58×10-05
increased circulating cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.62×10-06
increased total body fat amount Ankrd11Yod HET Early adult 6.54×10-05
abnormal startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-16
decreased body length Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 2.69×10-07
preweaning lethality, complete penetrance Ankrd11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 3.25×10-07
increased circulating HDL cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 4.46×10-05
decreased prepulse inhibition Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.55×10-06
abnormal embryo development Ankrd11tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal retina vasculature morphology Ankrd11Yod HET Early adult 1.43×10-05
decreased bone mineral density Ankrd11Yod HET Early adult 2.79×10-09
abnormal head morphology Ankrd11Yod HET   Early adult 9.55×10-06
abnormal auditory brainstem response Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.10×10-12
abnormal response to new environment Ankrd11Yod HET Early adult 6.52×10-05
decreased lean body mass Ankrd11Yod HET Early adult 8.98×10-05

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

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

Gross Morphology Embryo E9.5

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Ankrd11 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.

The table below shows human diseases associated to Ankrd11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ankrd11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholester... OMIM:144300
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pycnodysostosis
Prominent occiput, Wormian bones, Increased bone mineral density, Spondylolysis, Osteolytic defec... OMIM:265800
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular p... ORPHA:3416
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Achard Syndrome
Joint laxity, Broad skull, Brachycephaly, Micrognathia OMIM:100700
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Wormian bones, Delayed eruption of teeth, Osteoporosis, Micrognathia, M... OMIM:613849
Weill-Marchesani Syndrome 1
Joint stiffness, Broad skull, Hypoplasia of the maxilla, Thin bony cortex, Scoliosis, Spinal cana... OMIM:277600
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hereditary Sensory And Autonomic Neuropathy Type 2
Wormian bones, Hyperlordosis, Abnormality of the ankles, Foot acroosteolysis, Abnormality of the ... ORPHA:970
Ck Syndrome
Kyphosis, Slender build, Hyperlordosis, Micrognathia, Joint hypermobility, Microcephaly, Scoliosi... OMIM:300831
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Osteoporosis, Microcephaly, Frontal bossing, Joint hyperflexibility ORPHA:2787
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Scolio... ORPHA:53697
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dolichocephaly, Limitation of joint mobility, Pathologic fracture, Dentinogenesis ... ORPHA:166277
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Osteopenia, Intervertebral space narrowing, Back pain, Sclerotic foci of me... OMIM:271530
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Codas Syndrome
Coronal cleft vertebrae, Delayed ossification of carpal bones, Delayed eruption of teeth, Enamel ... OMIM:600373
Grant Syndrome
Wormian bones, Joint dislocation, Decreased skull ossification, Micrognathia, Frontal bossing, La... ORPHA:2097
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal b... OMIM:277950
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Wormian bones, Osteopenia, Recurrent fractures, Vertebral wedging, A... OMIM:610967
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Biconcave flattened vertebrae, Moderate generalized osteoporosis, Abnormal joint m... OMIM:166230
Weill-Marchesani Syndrome 2
Joint stiffness, Broad skull, Hypoplasia of the maxilla, Thin bony cortex, Scoliosis, Spinal cana... OMIM:608328
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal ... ORPHA:1802
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Osteochondrosis, Progressive ... ORPHA:564003
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Severe generalize... OMIM:259420
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Micrognathia, Thin bony cortex, Thin c... ORPHA:85184
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Thoracic kyphosis, Increased bone mineral density, Short neck, Ov... ORPHA:163649
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, Dolichocephaly, Joint st... ORPHA:40
Shashi-Pena Syndrome
Kyphosis, Osteoporosis, Scoliosis, Retrognathia, Macrocephaly OMIM:617190
Proteus Syndrome
Dolichocephaly, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Kyp... OMIM:176920
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Kyphosis, Osteopenia, Joint subluxation, Joint laxity, Increased suscep... OMIM:130060
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Abnormal enchondral ossification, Camptodactyly ... ORPHA:2635
Parastremmatic Dwarfism
Flexion contracture, Short neck, Kyphosis, Scoliosis, Genu valgum OMIM:168400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Congenital hip dislocation, Micrognathia, Midface retrusion, Scoli... OMIM:618291
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Enamel hypoplasia, Osteoporosis, Platyspondyly, Microcephaly, Failure to thrive, Scolio... OMIM:234250
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Delayed ossification of carpal bones, Small for gestational age, Kyphosis OMIM:618392
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Decreased body weight, Increased bone mineral density, Dislocated radial head, Ost... OMIM:614856
Premature Aging Syndrome, Penttinen Type
Wormian bones, Osteopenia, Delayed eruption of teeth, Micrognathia, Midface retrusion, Hypoplasia... OMIM:601812
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hao-Fountain Syndrome
Trigonocephaly, Large fontanelles, Delayed cranial suture closure, Premature adrenarche OMIM:616863
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Lethal Osteosclerotic Bone Dysplasia
Short neck, Micrognathia, Microcephaly, Mandibular aplasia, Large fontanelles, Delayed cranial su... ORPHA:1832
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly, Micrognathia OMIM:275595
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Pycnodysostosis
Micrognathia, Scoliosis, Decreased response to growth hormone stimulation test, Increased bone mi... ORPHA:763
Gorham-Stout Disease
Cortical irregularity, Osteopenia, Abnormality of the cervical spine, Mandibular pain, Abnormal b... ORPHA:73
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Delayed eruption of teeth, Increased T3/T4 ratio, Congenital hip dislocation, Impa... OMIM:614450
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Kyphosis, Coronal craniosynostosis, Platy... OMIM:616294
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Dolichocephaly, Delayed closure of the anterior fontanelle, Carious teeth, Increas... OMIM:604922
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Vertebral compression fracture, Recurrent fractures, Beaking of verteb... OMIM:231070
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Thickened cortex of long bones, Mandibular pain, Generalized... OMIM:607634
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis, Congenital bilateral hip dislocation, Small for gestational age ORPHA:85288
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Delayed eruption of teeth, Sparse bone trabeculae, Enamel hypoplasia, ... OMIM:264700
Osteogenesis Imperfecta, Type Iv
Wormian bones, Kyphosis, Biconcave flattened vertebrae, Recurrent fractures, Increased susceptibi... OMIM:166220
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Coccidioidomycosis
Eosinophilia, Abnormality of the vertebral column, Broad skull, Abscess, Osteomyelitis, Granuloma... ORPHA:228123
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Osteoarthritis, Abnormality of the knee, Large fontanelles, Joint swe... ORPHA:1525
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Recurrent fractures, Limitation of joint mobil... ORPHA:1486
Bruck Syndrome
Wormian bones, Kyphosis, Pterygium, Joint stiffness, Recurrent fractures, Osteoporosis, Platyspon... ORPHA:2771
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Recurrent fractures, Retinal ex... OMIM:133780
Dysostosis, Stanescu Type
Wormian bones, Short neck, Increased bone mineral density, Kyphosis, Carious teeth, Hyperlordosis... ORPHA:1798
Growth Hormone Insensitivity Syndrome
Hearing impairment, Hypercholesterolemia ORPHA:181393
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Osteopenia, Carious teeth, Sclerosis of skull base, Natal tooth, Scoli... OMIM:269300
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Wormian bones, Vertebral compression fracture, Recurrent fractures, Joi... OMIM:617952
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Sclerosis of skull base, Platyspondyly, Knee ... OMIM:313420
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Delayed eruption of teeth, Sparse bone trabeculae, Enamel hypoplasia, ... OMIM:277440
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Bruck Syndrome 1
Kyphosis, Pterygium, Vertebral wedging, Joint laxity, Osteoporosis, Ankle flexion contracture, Pl... OMIM:259450
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Flat occiput, Hyperlordosis, Micrognat... ORPHA:2780
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Delayed epiphyseal ossification, Delayed eruption of teeth... ORPHA:289157
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Sparse bone trabeculae, Enlargement of the wrists, Recurrent fractures... OMIM:600081
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Delayed closure of the anterior fontanelle, Osteolytic defe... OMIM:614008
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Scoliosis, Calvarial hyperost... ORPHA:1310
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Osteoporosis, Microgn... ORPHA:48431
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis OMIM:112350
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Delayed closure of the anterior fontanelle, Cranial asymmetry, Microcephal... OMIM:614886
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Frontal bossing, Osteolytic d... ORPHA:2484
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Temple Syndrome
Posteriorly rotated ears, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Decreased calvarial ossification, Multiple prenatal fractures, Microcephaly, Platy... OMIM:259410
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Wormian bones, Thoracic kyphosis, Platyspondyly OMIM:619638
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Microcephaly, Scoliosis, Turricephaly, Delayed cranial suture cl... OMIM:616602
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Generalized dystonia, Focal dystonia, P... ORPHA:52368
Alpha-Mannosidosis
Short neck, Kyphosis, Craniofacial hyperostosis, Splenomegaly, Scoliosis, Synostosis of joints, T... ORPHA:61
Diastrophic Dysplasia
Kyphosis, Increased bone mineral density, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:628
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Carious teeth, Micrognathia, Microcephaly, Scoliosis, Reduced bone mineral density, Ver... ORPHA:2617
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Hypoalbuminemia, Tremor OMIM:208920
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Kyphosis, Short neck, Micrognathia, Retrognathia, Arthrogryposis multiplex c... OMIM:618393
Flynn-Aird Syndrome
Primary adrenal insufficiency, Kyphosis, Joint stiffness, Abnormality of the thyroid gland, Cario... ORPHA:2047
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Micrognathia, Prot... OMIM:259600
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Flexion contracture, Contractures involving the joints of the feet, Multiple joint cont... ORPHA:536516
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Morphological ab... OMIM:182290
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Small for gestational age, Multiple suture craniosynostosis,... ORPHA:3369
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Small for gestational age, Micrognathia, Microcephaly, Frontal bossing... OMIM:614541
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Radial head subluxation, Generalized joint laxity, Scoliosis, Genu valgum, Hip disloc... ORPHA:93360
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip contracture, Arthrogryposis mul... OMIM:600175
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Microcephaly, Scoliosis, Large fontanelles, Brachycephaly, Delayed cranial suture ... ORPHA:2511
Brachydactyly, Type B1
Hypoplastic sacrum, Thoracolumbar scoliosis, Delayed eruption of permanent teeth, Vertebral fusio... OMIM:113000
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed ... OMIM:600785
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Prominent metopic ridge, Kyphosis, Mandibular prognathia, Scoliosis ORPHA:85317
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Obesity, Microcephaly, Lumbar hyperlordosis, Scoliosis, Hip dislocation OMIM:616756
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Broad skull, Microcephaly, Anemia, Hyperextensibility of the finger joints, Thrombocytopenia ORPHA:163979
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Dolichocephaly, Metopic synostosis, Frontal bossing, Delayed cranial suture clo... OMIM:175700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Micrognathia, Microcephaly, Abnormal... ORPHA:3098
Clark-Baraitser syndrome
Kyphosis, Joint laxity, Obesity, Maxillary lateral incisor microdontia, Frontal bossing, Scoliosi... OMIM:300602
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Decreased skull ossification, Microcephaly, Delayed cranial suture closure, Calvar... ORPHA:93324
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal stenosis, Obesity, Microcepha... OMIM:301900
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Osteopenia, Kyphosis, Vertebral compression frac... OMIM:610915
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Micrognathia, Microcephaly, Anemia, Scoliosis, Delayed puberty ORPHA:2598
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Decreased cervical spine mobility, Thoracic kyphosis, Short neck, Increased bone miner... ORPHA:93284
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Sparse bone trabeculae, Enlargement of the wrists, Recurrent fractures... OMIM:241530
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Kyphosis, Supernumerary tooth, Osteoporosis, Anterior ... OMIM:619718
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Vertebral wedging, Joint laxity, Increased susceptibi... OMIM:610968
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Joint hypermobility, Scoliosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Joint hypermobility, Microcephaly, Scoliosis OMIM:618050
Bruck Syndrome 2
Wormian bones, Osteopenia, Pterygium, Flexion contracture, Increased susceptibility to fractures,... OMIM:609220
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis, Mandibular prognathia, Macrocephaly ORPHA:2429
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Recurrent fractures, Obesity, Osteoporosis, Micrognathia, Flexion contractu... ORPHA:3409
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Genu varum, Short neck, Advanced tarsal ossification, Kyph... OMIM:251450
Spondyloepiphyseal Dysplasia Congenita
Short neck, Kyphosis, Cervical instability, Osteoporosis, Laryngotracheomalacia, Micrognathia, Ba... ORPHA:94068
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Small for gestational age, Joint contracture of the 5th finger, Micrognathia, Congenita... ORPHA:352490
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Distal joint laxity, Scoliosis, Hip dislocation OMIM:616471
Atkin-Flaitz Syndrome
Kyphosis, Joint laxity, Obesity, Maxillary lateral incisor microdontia, Frontal bossing, Scoliosi... OMIM:300431
Metatropic Dysplasia
Enlarged joints, Kyphosis, Flexion contracture, Abnormal enchondral ossification, Caudal appendag... OMIM:156530
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Carious teeth, Hyperlordosis, Joint dislocation, Platyspondyly, Scoliosis, ... ORPHA:582
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Frank-Ter Haar Syndrome
Kyphosis, Delayed eruption of teeth, Joint stiffness, Beaking of vertebral bodies, Scoliosis, Gen... ORPHA:137834
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Cario... OMIM:253000
Osteoporosis-Pseudoglioma Syndrome
Wormian bones, Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Fro... ORPHA:2788
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Microcephaly, Scoliosis,... OMIM:618736
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Micrognathia, Microcephaly, Scoliosis, Retrognathia, Arthrogryposis multipl... OMIM:611890
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Small for gestational age, Micrognathia, Microcephaly, Scoliosis, Brachycephaly, Arthro... OMIM:615834
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Abnormal parietal bone morphology, Osteomalacia, Scoliosis, Diabe... ORPHA:249
Sandhoff Disease
Macrocephaly, Failure to thrive, Kyphosis, Splenomegaly ORPHA:796
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Cleidocranial Dysplasia
Abnormal sacrum morphology, Wormian bones, Delayed eruption of teeth, Recurrent fractures, Cariou... ORPHA:1452
Smith-Mccort Dysplasia 1
Genu varum, Atlantoaxial instability, Kyphosis, Dolichocephaly, Hypoplastic acetabulae, Hypoplasi... OMIM:607326
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Congenital hip dislocation, Scoliosis, Camptodactyly of ... OMIM:300280
Cole-Carpenter Syndrome
Wormian bones, Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Recurr... ORPHA:2050
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Scoliosis, Kyphosis, Hip dislocation OMIM:300434
Weismann-Netter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Anemia, Scolio... ORPHA:3344
Congenital Muscular Dystrophy, Ullrich Type
Increased laxity of fingers, Kyphosis, Short neck, Flexion contracture, Hyperextensibility at wri... ORPHA:75840
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Frontal bossing, Scoliosis, Obesity, Kyphosis ORPHA:276630
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Camptodactyly of finger, Obesity, Macrocephaly, Prominent metopi... ORPHA:3210
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Cario... OMIM:253010
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis, Thickened... OMIM:126550
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal form of the vertebral bodies, Pterygium, Arthritis, Carpal osteolysis, Scler... ORPHA:371428
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Flexion contracture, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Recurrent fractures, Osteoporosis, Platyspondyly, Joint hypermobility, Scoliosis OMIM:619131
Osteogenesis Imperfecta, Type I
Wormian bones, Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Increased suscepti... OMIM:166200
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Abnormal trabecular bone morphology, Delayed erup... ORPHA:289176
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Osteopenia, Short neck, Small for gestational age, Multiple prenatal fractures, Fl... OMIM:616897
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Elevated circul... ORPHA:95717
Autosomal Recessive Primary Microcephaly
Microcephaly, Abnormal cortical bone morphology ORPHA:2512
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Kyphosis, Cubitus valgus, Hypogonadism ORPHA:1875
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Skull asymmetry, Craniosynostosis, Midface retrusion, Turricephaly, Brachycephaly,... OMIM:601853
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Kyphosis, Osteopenia, Cranial asymmetry, Scoliosis, Camptodactyly, Camptod... OMIM:609128
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Primary hypercortisolism, Truncal obesity, Paradoxical increa... OMIM:610475
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Small anterior fontanelle, Widely patent coronal suture, Osteoporos... ORPHA:2409
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Failure to thrive in infancy, Obesity, Frontal bossing, Scoliosis,... OMIM:615547
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Hajdu-Cheney Syndrome
Tall lumbar vertebral bodies, Wormian bones, Osteopenia, Short neck, Vertebral compression fractu... OMIM:102500
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Decreased circulating dehydroepiandrosterone concentration, Increased serum... OMIM:610489
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Scoliosis, Patellar dislocation, Patellar subluxation, Short... OMIM:121050
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Thoracic kyphosis, Kyphosis, Genu v... ORPHA:93314
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Achondroplasia
Knee joint hypermobility, Kyphosis, Cervical spinal canal stenosis, Hip joint hypermobility, Obes... ORPHA:15
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Osteopenia, Hepatosplenomegaly, Coronal craniosynostosis, Micro... ORPHA:313855
Craniosynostosis 4
Pansynostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis, ... OMIM:600775
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Absent brainstem auditory res... ORPHA:3240
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Microcephaly, Joint laxity, Kyphosis, Mandibular prognathia OMIM:248760
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wormian bones, Delayed eruption of teeth, Anterior hypopituitarism, Micrognathia, Camptodactyly o... ORPHA:2863
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Hypoplasia of the maxilla, Scoliosis, Mandibular prognathia, Macrocephaly OMIM:300676
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Kyphosis, Increased bone mineral density, Joint hyperflexibility, Limitatio... ORPHA:2658
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Flexion contracture, Osteoporosis, Micrognathia, Scoliosis, Diabetes mellitus, Hypogona... OMIM:615381
Coffin-Siris Syndrome 6
Plagiocephaly, Wormian bones, Micrognathia, Frontal bossing, Retrognathia, Kyphoscoliosis OMIM:617808
Osteogenesis Imperfecta, Type Ii
Wormian bones, Recurrent fractures, Small for gestational age, Multiple prenatal fractures, Absen... OMIM:166210
Tenorio Syndrome
Osteopenia, Scoliosis, Delayed cranial suture closure, Mandibular prognathia, Macrocephaly, Hypoi... OMIM:616260
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Osteopenia, Microcephaly, Delayed cranial suture closure, Hip dislocation OMIM:616603
Galactokinase Deficiency
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hyp... ORPHA:79237
Megalocornea-Intellectual Disability Syndrome
Genu varum, Hypothyroidism, Osteopenia, Kyphosis, Micrognathia, Microcephaly, Frontal bossing, Sc... ORPHA:2479
Pseudoleprechaunism Syndrome, Patterson Type
Delayed pubic bone ossification, Abnormal mandible condylar process morphology, Flat acetabular r... ORPHA:2976
Masa Syndrome
Microcephaly, Macrocephaly, Hyperlordosis, Kyphosis OMIM:303350
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Reduced ra... ORPHA:95716
Lateral Meningocele Syndrome
Wormian bones, Short neck, Dolichocephaly, Kyphosis, Abnormal form of the vertebral bodies, Crani... ORPHA:2789
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Dolichocephaly, Joint stiffness ORPHA:1548
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Plagiocephaly, Kyphosis, Coronal craniosynostosis, Micrognathia, Frontal bossing, Abnormal dental... ORPHA:85199
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Flexion contracture, Hyperinsulinemia, Osteolytic defects of the distal phalanges ... OMIM:608612
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Delayed eruption of teeth, Hypoplastic vertebral bodies, Delaye... OMIM:224300
Lateral Meningocele Syndrome
Wormian bones, Short neck, Dolichocephaly, Kyphosis, Sclerosis of skull base, Micrognathia, Joint... OMIM:130720
Mcdonough Syndrome
Kyphosis, Micrognathia, Scoliosis, Mandibular prognathia, Cachexia, Dental malocclusion ORPHA:2471
Pseudoachondroplasia
Genu varum, Kyphosis, Limited hip extension, Joint laxity, Hypoplasia of the odontoid process, Be... OMIM:177170
Potocki-Shaffer Syndrome
Wormian bones, Turricephaly, Parietal foramina, Brachycephaly OMIM:601224
Laron Syndrome
Hypercholesterolemia ORPHA:633
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Frontal bossing, Turricephaly, Brachyceph... ORPHA:83
O'Donnell-Luria-Rodan Syndrome
Macrocephaly, Kyphosis, Dolichocephaly OMIM:618512
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Hyperlordosis, Micrognathia, Scoliosis, Brachycephaly OMIM:615761
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Macronodular adrenal hyperplasia, Osteoporosis, Primary hypercortisolism, T... OMIM:219080
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures, Failure of eruption of perm... ORPHA:2769
Kleefstra Syndrome 2
Plagiocephaly, Kyphosis, Midface retrusion, Microcephaly, Scoliosis OMIM:617768
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Midface retrusion, Frontal bossi... OMIM:603116
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Thoracic kyphosis, Delayed ossification of carpal bones, Osteopenia, Lumbar interpedi... OMIM:271510
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Failure to thrive, Kyphosis, Joint hyperflexibility ORPHA:319199
Frank-Ter Haar Syndrome
Cortical irregularity, Wormian bones, Dental malocclusion, Osteopenia, Kyphosis, Osteoporosis, Mi... OMIM:249420
Menkes Disease
Wormian bones, Joint laxity, Osteoporosis, Microcephaly, Brachycephaly OMIM:309400
Sjögren-Larsson Syndrome
Kyphosis, Joint stiffness, Microcephaly, Scoliosis, Abnormal dental enamel morphology ORPHA:816
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Cervical kyphosis, Osteoporosis, Decreased skull ... ORPHA:666
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Micrognathia, Microcephaly, Fused cervical vertebrae, Abnorm... ORPHA:2522
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Wormian bones, Vertebral compression fracture, Multiple prenatal fractures, Midfac... OMIM:618644
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Elb... ORPHA:2916
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wormian bones, Wide anterior fontanel, Platyspondyly OMIM:601356
Myofibrillar Myopathy 10
Kyphosis, Ankle flexion contracture, Knee flexion contracture, Mandibular prognathia, Flexion con... OMIM:619040
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Kyphosis, Obesity, Micrognathia, Scoliosis, Type II diabe... ORPHA:3191
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Flexion contracture, Joint stiffness, Hyperinsulinemia, Osteolytic defects of the ... OMIM:248370
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Wormian bones, Osteopenia, Arthritis, Limitation of joint mobility, Osteoporosis, Osteolytic defe... OMIM:259100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short neck, Vertebral compression fracture, Recurrent fractures, Osteoporosis, Thin bony cortex, ... OMIM:309583
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Kyphosis, Recurrent fractures, Osteoporosis, Relative... OMIM:239000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Short neck, Dolichocephaly, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Stüve-Wiedemann Syndrome
Hypothyroidism, Osteopenia, Sacral dimple, Trismus, Camptodactyly of finger, Thickened cortex of ... ORPHA:3206
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Geographic atrophy, Abnormal auditory evo... OMIM:619260
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta, Reduced bone mineral density, Genu valgum, Hypogonadism ORPHA:2983
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Conductive hearing impairment, Retinal detachment, Hypertr... ORPHA:819
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Microcephaly, Plagiocephaly, Kyphosis, Micrognathia ORPHA:77300
Cleidocranial Dysplasia
Wormian bones, Kyphosis, Increased bone mineral density, Enamel hypoplasia, Delayed pubic bone os... OMIM:119600
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Frontal bossing, Hypothyroidism, Delayed cranial suture closure, Midface retrusion OMIM:613038
Van Maldergem Syndrome 2
Dental malocclusion, Osteopenia, Sacral dimple, Tracheomalacia, Joint laxity, Micrognathia, Midfa... OMIM:615546
Hajdu-Cheney Syndrome
Prominent occiput, Osteoporosis, Decreased skull ossification, Micrognathia, Scoliosis, Patellar ... ORPHA:955
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Van Maldergem Syndrome 1
Dental malocclusion, Osteopenia, Sacral dimple, Tracheomalacia, Joint laxity, Micrognathia, Midfa... OMIM:601390
Sialidosis Type 2
Flexion contracture, Kyphosis, Osteoporosis, Splenomegaly ORPHA:87876
Pachydermoperiostosis
Genu varum, Arthritis, Limitation of joint mobility, Osteoporosis, Elevated circulating growth ho... ORPHA:2796
Dyggve-Melchior-Clausen Disease
Genu varum, Thoracic kyphosis, Short neck, Kyphosis, Multicentric ossification of proximal humera... OMIM:223800
Marbach-Rustad Progeroid Syndrome
Wormian bones, Eruption failure, Micrognathia, Midface retrusion, Microcephaly, Delayed eruption ... OMIM:619322
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Kyphosis, Mandibular prognathia, Scoliosis ORPHA:1858
Hallermann-Streiff Syndrome
Wormian bones, Dolichocephaly, Small for gestational age, Tracheomalacia, Supernumerary tooth, Hy... OMIM:234100
Crisponi Syndrome
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Camptodactyly of finger, Limitation of jo... ORPHA:1545
Thanatophoric Dysplasia
Kyphosis, Joint stiffness, Platyspondyly, Midface retrusion, Cloverleaf skull, Frontal bossing, A... ORPHA:2655
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Short neck, Kyphosis, Flexion contracture, Microcephaly, Scoliosis, ... OMIM:301041
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Synostosis of carpal bones, Kyphosis, Joint stiffness, Microcephaly, Scolio... ORPHA:1005
Wieacker-Wolff Syndrome
Short neck, Kyphosis, Hyperlordosis, Micrognathia, Microcephaly, Scoliosis, Congenital foot contr... OMIM:314580
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platyspondyly, Scoliosis OMIM:230650
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Camurati-Engelmann Disease
Abnormality of the vertebral column, Leukopenia, Delayed eruption of teeth, Kyphosis, Slender bui... ORPHA:1328
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Short neck, Kyphosis, Microcephaly, Frontal bossing, Failure to thrive, Brach... OMIM:608776
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Microcephaly, Scoliosis, Obesity, Kyphosis OMIM:618443
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Midface retrusion, Frontal bossing, Thin calvarium, Delayed cranial suture closure ORPHA:1129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Microcephaly, Scoliosis, Vertebral fusion OMIM:606612
Immunodeficiency 49
Eosinophilia, Wormian bones, Micrognathia, Natal tooth, Lymphopenia OMIM:617237
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Joint laxity, Relative macrocephaly, Mandibular prognathia, Abdominal obesity, Delayed ... OMIM:300354
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Bipartite patella... ORPHA:85188
3M Syndrome
Short neck, Dolichocephaly, Delayed eruption of teeth, Increased vertebral height, Kyphosis, Cong... ORPHA:2616
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Decreased body weight, Weight loss, Leukopenia, Hyperinsulinemia, Increase... ORPHA:2298
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Sparse bone trabeculae, Enlargement of the wrists, Recurrent fractures... OMIM:300554
Pelger-Huet Anomaly
Kyphosis, Giant platelets, Abnormality of neutrophils, Frontal bossing, Failure to thrive, Neutro... OMIM:169400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Wormian bones, Kyphosis, Joint subluxation, Hyperlordosis, Joint hypermobility, Scoliosis, Hypere... OMIM:617821
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphos... OMIM:183900
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Wormian bones, Osteopenia, Vertebral compression fracture, Mult... OMIM:610682
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Short neck, Small for gestational age, Dysplastic sacrum, Frontal bossing, Large f... OMIM:613320
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Kyphosis, Obesity, Microcephaly, Scoliosis, Hip dislocation ORPHA:464282
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Frontal bossing, Scoliosis, Joint hyperflexibility ORPHA:2181
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Wide cranial sutures, Dental malocclusion, Scaphocephaly OMIM:619149
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Kyphosis, Small for gestational age, Scoliosis, Arthrogryposis multiplex con... OMIM:618484
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Kyphosis, Flexion contracture, Slender build, Hyperextensibility at ... OMIM:254090
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Jaberi-Elahi Syndrome
Kyphosis, Joint stiffness, Joint hypermobility, Microcephaly, Failure to thrive, Scoliosis OMIM:617988
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone, Epiphyseal stippling, Knee flexion contracture, Frontal bossing, Sc... OMIM:118650
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Leukopenia, Increased bone mineral density, Osteopenia, Kyphosis, Ve... ORPHA:77259
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Cutis Laxa, Autosomal Recessive, Type Iiia
Wormian bones, Congenital hip dislocation, Joint hypermobility, Frontal bossing, Failure to thriv... OMIM:219150
Mandibuloacral Dysplasia
Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand, Contractures of the lar... ORPHA:2457
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Trisomy 20P
Plagiocephaly, Short neck, Dolichocephaly, Kyphosis, Abnormal form of the vertebral bodies, Micro... ORPHA:261318
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Slender build, Joint laxity, Scoliosis, Genu recurvatum, Mandibular prognathia, Brachyc... ORPHA:364028
Atypical Werner Syndrome
Sclerosis of hand bone, Osteoporosis, Micrognathia, Chondrocalcinosis, Diabetes mellitus, Increas... ORPHA:79474
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Osteopenia, Dolichocephaly, Hyperinsulinemi... OMIM:176270
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Silver-Russell Syndrome 1
Small for gestational age, Micrognathia, Frontal bossing, Delayed cranial suture closure, Decreas... OMIM:180860
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Carious teeth, Decreased skull ossification, Anemia, ... OMIM:244460
Schwartz-Jampel Syndrome
Abnormally straight spine, Trismus, Osteoporosis, Micrognathia, Microcephaly, Protrusio acetabuli... ORPHA:800
Wrinkly Skin Syndrome
Wormian bones, Osteopenia, Progressive microcephaly, Delayed eruption of teeth, Kyphosis, Carious... OMIM:278250
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Memory impairment, Anxiety, Retinal cotton wool spot, Retinal neovasculariz... ORPHA:247691
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Osteopenia, Dolichocephaly, Splenomegaly, Micrognathia, Frontal bo... OMIM:261515
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Micrognathia, Proximal symphalangism of hands, Microcephaly, Frontal bossi... OMIM:151050
Widow'S Peak Syndrome
Arthralgia/arthritis, Recurrent patellar dislocation, Kyphosis, Hip osteoarthritis OMIM:314570
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Action tremor... ORPHA:99027
Marinesco-Sjogren Syndrome
Kyphosis, Flexion contracture, Microcephaly, Failure to thrive, Scoliosis, Cubitus valgus, Hyperg... OMIM:248800
Ruvalcaba Syndrome
Kyphosis, Microcephaly, Limited elbow extension, Scoliosis, Delayed puberty OMIM:180870
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Silver-Russell Syndrome
Failure to thrive in infancy, Secondary microcephaly, Obesity, Relative macrocephaly, Micrognathi... ORPHA:813
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Decreased skull ossification, Anemia, Delayed crania... ORPHA:93325
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD4-positive helper T cells, Micrognathia, Microcephaly, Cloverleaf skull... ORPHA:508533
19P13.12 Microdeletion Syndrome
Hypothyroidism, Craniosynostosis, Short neck, Kyphosis, Obesity, Microcephaly, Scoliosis, Precoci... ORPHA:254346
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Midface retrusion, Sc... ORPHA:3219
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbuminemia, Hypernatr... ORPHA:529799
Apert Syndrome
Synostosis of carpal bones, Acrobrachycephaly, Lambdoidal craniosynostosis, Craniosynostosis, Del... OMIM:101200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Obesity, Hyperlordosis, Type II diabetes mellitus, Hypergonadotropic ... ORPHA:3085
Typical Nemaline Myopathy
Genu varum, Kyphosis, Short neck, Flexion contracture, Hyperlordosis, Micrognathia, Scoliosis, Sp... ORPHA:171436
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Osteopenia, Kyphosis, Delayed puberty, Cont... ORPHA:2232
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Microcephaly, Scoliosis, Mandibular prognathia, Prominent metopic ridge ORPHA:261144
Faciocardiomelic Syndrome
Large for gestational age, Osteopenia, Micrognathia, Microcephaly, Thin bony cortex, Cuboid-shape... OMIM:612731
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Gm1 Gangliosidosis
Hepatosplenomegaly, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Splenomegal... ORPHA:354
Marden-Walker Syndrome
Short neck, Kyphosis, Congenital contracture, Micrognathia, Microcephaly, Radioulnar synostosis, ... OMIM:248700
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Megalocornea-Mental Retardation Syndrome
Cupped ear, Large fleshy ears, Hypercholesterolemia OMIM:249310
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Kyphosis, Joint stiffness, Micrognathia, Proximal radio-ulna... ORPHA:2062
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Carious teeth, Joint contracture of the 5th finger, Scoliosis, Camptodactyly of finger ORPHA:1883
Saethre-Chotzen Syndrome
Plagiocephaly, Craniosynostosis, Abnormal form of the vertebral bodies, Hyperlordosis, Hypoplasia... ORPHA:794
Trisomy 9P
Impacted tooth, Short neck, Kyphosis, Sacral dimple, Microcephaly, Scoliosis, Brachycephaly ORPHA:236
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Mandibular prognathia OMIM:300861
Craniolenticulosutural Dysplasia
Osteopenia, Delayed eruption of teeth, Delayed closure of the anterior fontanelle, Joint laxity, ... OMIM:607812
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Baraitser-Winter Cerebrofrontofacial Syndrome
Trigonocephaly, Short neck, Joint stiffness, Osteochondrosis, Micrognathia, Microcephaly, Failure... ORPHA:2995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Wormian bones, Delayed closure of the anterior fontanelle, Spondylo... OMIM:304120
Hypomelanosis Of Ito
Microcephaly, Macrocephaly, Scoliosis, Kyphosis OMIM:300337
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Joint stiffness, Hyperlordosis, Scoliosis, Genu valgum OMIM:252605
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 level, ... ORPHA:226307
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Thoracic scoliosis, Kyphosis, Osteopenia, Sacral dimple, Radioulnar disloca... ORPHA:536532
Distal Tetrasomy 15Q
Large for gestational age, Craniosynostosis, Kyphosis, Flexion contracture, Micrognathia, Scolios... ORPHA:314588
Ulna Hypoplasia-Intellectual Disability Syndrome
Elbow dislocation, Joint stiffness, Large fontanelles, Delayed cranial suture closure ORPHA:2249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Midface retrusion, Frontal bossing, Lumbar hyperlordosis, Wide anterior ... OMIM:616482
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Campomelic Dysplasia
Short neck, Kyphosis, Tracheomalacia, Poorly ossified cervical vertebrae, Recurrent fractures, Tr... ORPHA:140
Mend Syndrome
Microretrognathia, Kyphosis, Midface retrusion OMIM:300960
X-Linked Intellectual Disability, Cabezas Type
Biparietal narrowing, Short neck, Kyphosis, Camptodactyly of finger, Obesity, Microcephaly, Scoli... ORPHA:85293
Oculodentodigital Dysplasia
Cranial hyperostosis, Abnormal form of the vertebral bodies, Carious teeth, Micrognathia, Madelun... ORPHA:2710
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Anterior clefting of vertebral bodies, Kyphosis, Popliteal pterygium, Disl... OMIM:265000
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Cloverleaf skull, Frontal bossing, Macrocephaly, Joint hyperflexibility,... ORPHA:93274
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
De Barsy Syndrome
Wormian bones, Osteopenia, Progressive microcephaly, Delayed eruption of teeth, Delayed closure o... ORPHA:2962
Baralle-Macken Syndrome
Microcephaly, Obesity, Kyphosis OMIM:619255
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck, Micrognathia, Frontal bossing, Mandibular prognathia ORPHA:3082
Dent Disease 1
Enlargement of the ankles, Sparse bone trabeculae, Enlargement of the wrists, Recurrent fractures... OMIM:300009
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Osteoarthritis, Platyspondyly, Midface retrusion, Spondylo... OMIM:108300
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Delayed proximal femoral epiphyseal... ORPHA:90674
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Severe generalized osteoporosis, Micrognathia, Knee flexion contracture, Microcephaly, Dislocatio... OMIM:210730
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Hypergonadotropic hypogonadism, Microcephaly, Spinal rigidity, Spinal deformities OMIM:615084
Thanatophoric Dysplasia Type 1
Kyphosis, Joint stiffness, Platyspondyly, Cloverleaf skull, Frontal bossing, Abnormal sacroiliac ... ORPHA:1860
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Increased susceptibility to fractures, Primary microcephaly, Persiste... ORPHA:357058
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Macrocephaly, Kyphosis, Osteopetrosis, Platyspondyly OMIM:618476
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Obesity, Osteoporosis, Pituitary adenoma, Abdominal obe... OMIM:219090
Marshall-Smith Syndrome
Prominent occiput, Wormian bones, Decreased body weight, Thoracic scoliosis, Dolichocephaly, Thor... OMIM:602535
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Thoracic kyphosis, Short neck, Flexion contracture, Hypoplasia of the odontoid pro... OMIM:300232
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve ... ORPHA:90321
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus OMIM:617435
4Q21 Microdeletion Syndrome
Kyphosis, Short neck, Frontal bossing, Scoliosis, Large fontanelles ORPHA:238750
Harrod Syndrome
Kyphosis, Microcephaly, Failure to thrive, Scoliosis, Dental malocclusion, Joint hyperflexibility ORPHA:2115
Alstrom Syndrome
Hypothyroidism, Kyphosis, Diabetes insipidus, Hyperinsulinemia, Insulin-resistant diabetes mellit... OMIM:203800
Rett Syndrome
Progressive microcephaly, Primary microcephaly, Increased serum leptin, Failure to thrive, Scoliosis ORPHA:778
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Scoliosis, Kyphosis, Limitation of joint mobility ORPHA:3454
Otofacioosseous-Gonadal Syndrome
Wormian bones, Carpal synostosis, Frontal bossing, Brachycephaly, Genu valgum OMIM:601976
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Micrognathia, Decreased adiponectin level, Osteolytic defects of the phalanges of t... ORPHA:280365
Autosomal Recessive Spondylocostal Dysostosis
Prominent occiput, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly of ... ORPHA:2311
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture