Gene Summary

Name:
ankyrin repeat domain 11
Synonyms:
2410104C19Rik,  9530048I21Rik,  3010027A04Rik,  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 circulating cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.62×10-06
abnormal startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.12×10-16
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
abnormal retinal vasculature morphology Ankrd11Yod HET Early adult 1.43×10-05
decreased body length Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 2.69×10-07
abnormal vitreous body morphology Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 6.58×10-05
decreased circulating amylase level Ankrd11Yod HET Early adult 1.79×10-05
abnormal auditory brainstem response Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.10×10-12
increased bone mineral content Ankrd11Yod HET Early adult 2.07×10-05
abnormal embryo development Ankrd11tm1b(EUCOMM)Wtsi HOM E9.5 0.00
decreased prepulse inhibition Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.55×10-06
abnormal response to new environment Ankrd11Yod HET Early adult 6.52×10-05
decreased bone mineral density Ankrd11Yod HET Early adult 1.49×10-06
abnormal head morphology Ankrd11Yod HET   Early adult 9.55×10-06

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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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

2 Images

Gross Morphology Embryo E9.5

Images

3 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A 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
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Delayed eruption of primar... OMIM:265800
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Achard Syndrome
Broad skull, Joint laxity, Micrognathia, Brachycephaly OMIM:100700
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Wormian bones, Scoliosis, Midface retrusion, Generalized... OMIM:613849
Weill-Marchesani Syndrome 1
Scoliosis, Broad skull, Lumbar hyperlordosis, Joint stiffness, Brachycephaly, Thin bony cortex, S... OMIM:277600
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Wormian bones, Hyperlordosis, Osteolysis, Abnormality of the knee, Abnormal ... ORPHA:970
Ck Syndrome
Scoliosis, Hyperlordosis, Joint hypermobility, Slender build, Kyphosis, Abnormal cortical bone mo... OMIM:300831
Gnathodiaphyseal Dysplasia
Scoliosis, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, Thickened cortex... ORPHA:53697
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Microcephaly ORPHA:2787
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Abnormal cortical bone morphology, Pathologic fracture, Dentinogenesis imperfecta,... ORPHA:166277
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Kyphosis, Back pain, Flat acetabular roof, Intervertebral s... OMIM:271530
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Scoliosis, Broad skull, Genu valgum, Congenital hip... OMIM:600373
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Grant Syndrome
Wormian bones, Frontal bossing, Large fontanelles, Joint hyperflexibility, Abnormal cortical bone... ORPHA:2097
Osteogenesis Imperfecta, Type V
Wormian bones, Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
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
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Weill-Marchesani Syndrome 2
Scoliosis, Broad skull, Flexion contracture of toe, Lumbar hyperlordosis, Joint stiffness, Brachy... OMIM:608328
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Abnormal cortical bone morpholo... ORPHA:1802
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Osteochondrosis Of The Metatarsal Bone
Thickened cortex of bones, Progressive joint destruction, Sclerosis of foot bone, Joint stiffness... ORPHA:564003
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Biconcave... OMIM:259420
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the ante... OMIM:614008
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fr... OMIM:259440
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Abnormal bone ossification, Short neck, Wide anterior fontanel, Frontal bossing, A... ORPHA:163649
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Osteopenia, Obtuse angle of mandible, Incr... ORPHA:85184
Shashi-Pena Syndrome
Scoliosis, Osteoporosis, Kyphosis, Macrocephaly, Retrognathia OMIM:617190
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Frontal bossing, Abnormal form of the vertebral bodies, Beaking of vert... ORPHA:40
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Midface retrusion, Kyphosis, Increased susceptibility to fractures, Cong... OMIM:130060
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck,... ORPHA:2114
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Wormian bones, Thin calvarium, Midface retrusion, Elevated ... OMIM:601812
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Osteoporosis, Platyspondyly, Hypoplasia of the primary teeth, Kypho... OMIM:234250
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Wormian bones, Scoliosis, Platyspondyly, Joint hypermobility, Dislocated radial hea... OMIM:614856
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, Midface retrusion, Kyp... OMIM:618291
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Hao-Fountain Syndrome
Premature adrenarche, Delayed cranial suture closure, Trigonocephaly, Large fontanelles OMIM:616863
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Hyperlordosis, Genu valgum, Coronal cleft vert... OMIM:618363
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short neck, Large fontanelles, Delayed cranial suture closure, Microcephaly, ... ORPHA:1832
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Micrognathia, Trigonocephaly, Prominent metopic ridge OMIM:275595
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Wormian bones, Congenital hip dislocation, Increased T3/T4 ratio, Impa... OMIM:614450
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... OMIM:616294
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Recurrent fractures, Re... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Abnormality of the vertebral column, Thickened calvaria, Osteopetrosis, Generali... OMIM:607634
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Carious teeth, Delayed closure of the anterior fontanelle, Limited elbow extension... OMIM:604922
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Enlargement of the ankles, Delayed e... OMIM:277440
Gorham-Stout Disease
Mandibular pain, Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density... ORPHA:73
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Congenital bilateral hip dislocation, Increased serum serotonin ORPHA:85288
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Delayed epiphyseal ossif... OMIM:264700
Bruck Syndrome
Osteoporosis, Wormian bones, Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Kyphos... ORPHA:2771
Optic Atrophy 8
Abnormal auditory evoked potentials, Optic atrophy, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures,... ORPHA:1486
Proteus Syndrome
Dolichocephaly, Kyphoscoliosis, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Macrocep... OMIM:176920
Cranio-Osteoarthropathy
Abnormality of the knee, Joint swelling, Large fontanelles, Abnormal cortical bone morphology, Jo... ORPHA:1525
Coccidioidomycosis
Broad skull, Osteolysis, Abnormality of the vertebral column, Granuloma, Arthritis, Abnormality o... ORPHA:228123
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Orthostatic hypotension, Hypertriglyceridemia, Pigmentary retinopathy OMIM:606721
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Pycnodysostosis
Hyperlordosis, Delayed eruption of teeth, Wormian bones, Osteolysis, Abnormality of the vertebral... ORPHA:763
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Wide anterior fontanel, Man... OMIM:269300
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hearing impairment ORPHA:181393
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... OMIM:259450
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip ... OMIM:313420
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Large fontanelles, Frontal bossing, Flat occ... ORPHA:2780
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Delayed epiphyseal ossif... ORPHA:289157
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Frontal bossing, Rickets, Flat occiput, Recurrent fractures, Widely pa... OMIM:600081
Dysplastic Cortical Hyperostosis
Microcephaly, Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Caffey Disease
Scoliosis, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyse... ORPHA:1310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Kyphosis, Abnormality of the cervical spine, Hy... ORPHA:48431
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum, Calvarial hyperostosis, Delayed eruption of permanent teeth OMIM:112350
Melnick-Needles Syndrome
Scoliosis, Delayed eruption of teeth, Anisospondyly, Frontal bossing, Craniofacial hyperostosis, ... ORPHA:2484
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Platybasia, Decreased calvarial ossification, Multiple prenatal fractures, Bowing ... OMIM:259410
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Temple Syndrome
Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Abnormal cortical bone morpho... OMIM:614886
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Craniosynostosis 6
Scoliosis, Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina ... OMIM:616602
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Alpha-Mannosidosis
Scoliosis, Synostosis of joints, Craniofacial hyperostosis, Mandibular prognathia, Kyphosis, Type... ORPHA:61
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Carious teeth, Kyphosis, Reduced bone mineral density, Microcephaly, Micrognathia, Ver... ORPHA:2617
Eiken Syndrome
Cubitus valgus, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip move... ORPHA:79106
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:628
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Short neck, Kyphosis, Flexion contracture, Camptodactyly, Ret... OMIM:618393
Flynn-Aird Syndrome
Scoliosis, Carious teeth, Primary adrenal insufficiency, Bone cyst, Kyphosis, Abnormality of the ... ORPHA:2047
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Joint hypermobility, Shoulder flexion contracture, Patellar subluxation... ORPHA:536516
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Interphalangeal joint contract... OMIM:259600
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Bethlem Myopathy 2
Hip dislocation, Kyphosis, Flexion contracture, Joint laxity OMIM:616471
Smith-Magenis Syndrome
Hypercholesterolemia, Morphological abnormality of the middle ear, Hypertriglyceridemia, Hearing ... OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Wide anterior fontanel, Frontal bossing, Small for gestational age, Fa... OMIM:614541
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Camptodactyly, Hemivertebrae, Vertebral fusion, Delay... OMIM:113000
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Knee flexion contracture,... OMIM:600175
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Menkes Disease
Osteoporosis, Wormian bones, Joint laxity, Brachycephaly, Microcephaly OMIM:309400
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Frontal bossing, Mandibular prognathia, Kyphosis, Macrocephaly, Hypoplasia of the maxilla OMIM:300676
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Secondary microcephaly, Small anterior fontanelle, Premature... ORPHA:3369
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Generalized bone demineralization, Rickets, Rickets of the lower limbs, Elevated cir... OMIM:600785
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis, Large fontanelles, Mandibular prognathia, Flat occiput, Delayed cranial... ORPHA:2511
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Microcephaly, Hip dislocation, Obesity OMIM:616756
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing, Camptodactyly of toe, Abnormality of calvarial morphology, Del... OMIM:175700
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Mandibular prognathia, Prominent metopic ridge, Kyphosis ORPHA:85317
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Maxillary later... OMIM:300602
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Hypoalbuminemia OMIM:208920
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Inc... ORPHA:93284
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Multiple joint dislocation, Delayed epiphyseal ... ORPHA:93360
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short neck, Wide anterior fontanel, Abnormal form of the vertebral bodie... ORPHA:3098
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Anemia, Microcephaly, Micrognathia ORPHA:2598
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Broad skull, Thrombocytopenia, Anemia, Microcephaly, Hyperextensibility of the finger joints ORPHA:163979
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Bruck Syndrome 2
Wormian bones, Platyspondyly, Flexion contracture, Pterygium, Increased susceptibility to fractur... OMIM:609220
Mental Retardation, Autosomal Dominant 57
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Microcephaly OMIM:618050
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Frontal bossing, Rickets, Hypophosphatemic rickets, Flat occiput, Recu... OMIM:241530
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Kyphosis, Thickene... OMIM:301900
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Delayed cranial suture closure, Congen... ORPHA:93324
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Increased susceptibilit... OMIM:610968
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Truncal obesity, Macrocephaly ORPHA:2429
Desbuquois Dysplasia 1
Osteoporosis, Scoliosis, Hyperlordosis, Platyspondyly, Advanced tarsal ossification, Joint laxity... OMIM:251450
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Short neck, Kyphosis, Flexion contracture of toe, Recurren... ORPHA:3409
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Large fontanelles, Absent ossification of calvaria, Recurrent fract... OMIM:166210
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Brachycephaly, Kyphoscoliosis, Microcephaly OMIM:122900
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Joint contracture of the 5th finger, Con... ORPHA:352490
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Maxillary later... OMIM:300431
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Abn... ORPHA:93315
Mental Retardation, Autosomal Dominant 26
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Small for gestational age, Brachycephaly... OMIM:615834
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Platyspondyly, Genu v... ORPHA:582
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Scoliosis, Platyspondyly, Genu valgum, Short neck, Kyphosis, Back pain, Increased h... ORPHA:94068
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Wide anterior fontanel, Joint laxity, Kyphosis, Recurren... OMIM:610915
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Microcephaly, Retrognathia, ... OMIM:611890
Mucopolysaccharidosis, Type Iva
Osteoporosis, Scoliosis, Carious teeth, Hyperlordosis, Platyspondyly, Joint laxity, Genu valgum, ... OMIM:253000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput,... OMIM:618736
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Wormian bones, Joint laxity, Frontal bossing, Isosexual precocious puberty, Increas... ORPHA:2788
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Osteolysis, Beaking of vertebral b... ORPHA:137834
Fibrous Dysplasia Of Bone
Scoliosis, Elevated circulating growth hormone concentration, Increased circulating cortisol leve... ORPHA:249
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Platyspondyly, Multicentric femoral head ossification, Genu ... OMIM:607326
Cleidocranial Dysplasia
Osteoporosis, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Wormia... ORPHA:1452
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Cole-Carpenter Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Frontal b... ORPHA:2050
Sandhoff Disease
Macrocephaly, Kyphosis, Failure to thrive, Splenomegaly ORPHA:796
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Kyphosis, Joint... OMIM:300280
Weismann-Netter Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Abnormal cortical bone morphology, Ab... ORPHA:3344
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Frontal bossing, Obesity ORPHA:276630
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Sclerotic cranial sutures, Osteolysis, Abnormal form of the vertebral bodies, Osteo... ORPHA:371428
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Wormian bones, Platyspondyly, Joint hypermobility, Scoliosis, Recurrent fractures OMIM:619131
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Biconcave flattened vertebrae, Recurrent fractu... OMIM:166200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Microcephaly, Kyphosis, Hip dislocation OMIM:300434
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Scoliosis, Carious teeth, Hyperlordosis, Platyspondyly, Joint laxity, Genu valgum, ... OMIM:253010
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Short neck, Kyphosis, Flexion contracture, Hyperextensibility at wrists, Increased lax... ORPHA:75840
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular a... ORPHA:289176
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Craniosynostosis, Plagiocephaly, Macrocephaly, Prominent me... ORPHA:3210
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Joint hyperflexibility, Hypogonadism, Kyphosis ORPHA:1875
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Large posterior fontanelle, Decreased circulati... ORPHA:95717
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Carious teeth, Scoliosis, Thickened calvaria, Recurrent fractures, O... OMIM:126550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Short neck, Flexion contracture, Osteopenia, Fractured radius, Mult... OMIM:616897
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Skull asymmetry, Brac... OMIM:601853
Autosomal Recessive Primary Microcephaly
Microcephaly, Abnormal cortical bone morphology ORPHA:2512
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Schaaf-Yang Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Frontal bossing, Mandibular prognathia, Kyphosis, ... OMIM:615547
Arthrogryposis, Distal, Type 4
Scoliosis, Kyphosis, Lumbar scoliosis, Camptodactyly, Camptodactyly of 2nd-5th fingers, Distal ar... OMIM:609128
Mohr-Tranebjaerg Syndrome
Tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:52368
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Widely patent coro... ORPHA:2409
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610489
Frank-Ter Haar Syndrome
Osteoporosis, Wormian bones, Wide anterior fontanel, Kyphosis, Camptodactyly, Flat occiput, Delay... OMIM:249420
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Decreased calvarial o... ORPHA:313855
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Acute hyperammonemia, Hypertriglyceridemia, Hypoal... ORPHA:247585
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Hajdu-Cheney Syndrome
Foot acroosteolysis, Wormian bones, Osteoporosis, Genu valgum, Short neck, Joint laxity, Dislocat... OMIM:102500
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Large fontanelles, Joint hyperflexibility, Mandibul... ORPHA:2658
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Wormian bones, Micrognathia, Anterior hypopit... ORPHA:2863
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Microcephaly, Mandibular prognathia, Joint laxity, Kyphosis OMIM:248760
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Frontal bossing, La... ORPHA:85199
Tenorio Syndrome
Scoliosis, Mandibular prognathia, Hypoinsulinemia, Delayed cranial suture closure, Macrocephaly, ... OMIM:616260
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Congenital kyphoscoliosis, Wrist flexion contracture, Short neck, Micro... OMIM:121050
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Sensorineural hearing impairment, ... ORPHA:79237
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Scoliosis, Kyphosis, Flexion contracture, Diabetes mellitus, Hypogonadism, Microgna... OMIM:615381
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Microcephaly, Kyphosis, Micrognathia OMIM:617061
Achondroplasia
Thoracolumbar kyphosis, Limited elbow extension, Cervical spinal canal stenosis, Wide anterior fo... ORPHA:15
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Frontal bossing, Hypothyroidism, Kyphosis, Joint hyperflexibility, Osteopenia, Genu va... ORPHA:2479
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:608612
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Crani... ORPHA:2789
Pseudoleprechaunism Syndrome, Patterson Type
Delayed pubic bone ossification, Hyperplasia of the maxilla, Abnormal mandible condylar process m... ORPHA:2976
Masa Syndrome
Macrocephaly, Microcephaly, Hyperlordosis, Kyphosis OMIM:303350
Pseudoachondroplasia
Scoliosis, Platyspondyly, Limited elbow extension, Limited hip extension, Irregular carpal bones,... OMIM:177170
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, La... ORPHA:95716
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Dolichocephaly, Joint stiffness, Kyphosis ORPHA:1548
Mcdonough Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Cachexia, Dental malocclusion, Micrognathia ORPHA:2471
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Short neck, Biconcave vertebral bodies, Platybasia... OMIM:130720
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Delayed cranial suture closure, Osteopenia, Hip dislocation, Microcephaly OMIM:616603
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Frontal bossing, Recurrent fractures, Elbow ankylosis,... ORPHA:83
Laron Syndrome
Hypercholesterolemia ORPHA:633
Familial Osteodysplasia, Anderson Type
Scoliosis, Carious teeth, Failure of eruption of permanent teeth, Abnormal form of the vertebral ... ORPHA:2769
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Brachycephaly, Turricephaly OMIM:601224
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Hyperlordosis, Joint hypermobility, Frontal bossing, Thin calvarium, Pl... OMIM:234100
Dysosteosclerosis
Delayed eruption of teeth, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Pl... OMIM:224300
Coffin-Siris Syndrome 6
Wormian bones, Frontal bossing, Plagiocephaly, Kyphoscoliosis, Retrognathia, Micrognathia OMIM:617808
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Fused cervical vertebrae, Abnorm... ORPHA:2522
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Kyphosis, Sacral dimple, Brachycephaly, Micrognathia OMIM:615761
O'Donnell-Luria-Rodan Syndrome
Macrocephaly, Dolichocephaly, Kyphosis OMIM:618512
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Kleefstra Syndrome 2
Scoliosis, Midface retrusion, Kyphosis, Plagiocephaly, Microcephaly OMIM:617768
Cdags Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal foramina, Sagittal cran... OMIM:603116
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Kyphosis, Joint hyperflexibility, Failure to thrive ORPHA:319199
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Decreased circulating ACTH level, Increased circulating cortisol level, Kyphosis, P... OMIM:219080
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Sjögren-Larsson Syndrome
Scoliosis, Abnormal dental enamel morphology, Kyphosis, Joint stiffness, Microcephaly ORPHA:816
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Joint hypermobility, ... ORPHA:666
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Type II diabetes mellitus, Micrognat... ORPHA:3191
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Dolichocephaly, Sho... ORPHA:178148
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wormian bones, Wide anterior fontanel, Platyspondyly OMIM:601356
Myofibrillar Myopathy 10
Flexion contracture of finger, Mandibular prognathia, Kyphosis, Knee flexion contracture, Elbow f... OMIM:619040
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:248370
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies, Elbow disloc... ORPHA:2916
Osteogenesis Imperfecta, Type Xx
Wormian bones, Midface retrusion, Mandibular prognathia, Plagiocephaly, Multiple prenatal fractur... OMIM:618644
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Delayed eruption of primary teeth, Delayed pubic bone ossificat... OMIM:119600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Wormian bones, Large fontanelles, Thickened calvaria, Limitation of joint mobility,... OMIM:259100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Limited elbow extension, Genu valgum, Frontal bossing, Biconcave vertebral bodies,... OMIM:271510
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Microcephaly, Kyphosis, Micrognathia, Plagiocephaly ORPHA:77300
Stüve-Wiedemann Syndrome
Osteoporosis, Scoliosis, Camptodactyly of finger, Genu valgum, Flexion contracture of finger, Hyp... ORPHA:3206
Pituitary Hormone Deficiency, Combined, 1
Midface retrusion, Hypothyroidism, Delayed cranial suture closure, Frontal bossing OMIM:613038
Thanatophoric Dysplasia
Platyspondyly, Frontal bossing, Midface retrusion, Joint hyperflexibility, Kyphosis, Cloverleaf s... ORPHA:2655
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Multicentric ossification of proximal femoral epiphyses, Genu valgum, B... OMIM:223800
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Kyphosis, Reduced bone mineral density, Spina bifida occulta, Hypogonadism, Short neck ORPHA:2983
Smith-Magenis Syndrome
Hypercholesterolemia, Conductive hearing impairment, Hypertriglyceridemia, EEG abnormality, Retin... ORPHA:819
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Van Maldergem Syndrome 2
Scoliosis, Wide anterior fontanel, Joint laxity, Midface retrusion, Sacral dimple, Wide cranial s... OMIM:615546
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Delayed puberty, Short neck, Microgna... ORPHA:955
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Kyphosis, Short mandibular rami OMIM:141300
Pachydermoperiostosis
Osteoporosis, Scoliosis, Osteolysis, Elevated circulating growth hormone concentration, Joint swe... ORPHA:2796
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Kyphosis, Thickened calvaria, Recurrent fractures, Increased bone minera... OMIM:239000
Congenital Disorder Of Glycosylation, Type Il
Short neck, Frontal bossing, Kyphosis, Brachycephaly, Failure to thrive, Microcephaly, Hip disloc... OMIM:608776
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Retinal degeneration, Sensorineural hearing impairment, Abnormal auditory evoked... OMIM:619260
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Van Maldergem Syndrome 1
Scoliosis, Wide anterior fontanel, Joint laxity, Midface retrusion, Sacral dimple, Wide cranial s... OMIM:601390
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Mandibular prognathia, Dental malocclusion, Kyphosis ORPHA:1858
Crisponi Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Flexion contracture, Micrognathia, Limitation of jo... ORPHA:1545
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Short... OMIM:314580
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Biparietal narrowing, Synostosis of carpal bones, K... ORPHA:1005
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Midface retrusion, Reduced bone mineral density... OMIM:619322
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Microretrognathia, Kyphosis, Flexion contracture, Limited shoulder movement, Achilles ... OMIM:301041
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture, Splenomegaly ORPHA:87876
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Flexion contracture, Neutropenia, Hip dislocation, Failure to thrive, Kyphoscolio... OMIM:618005
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Apathy, Elevated circulating creatinine concentration, Reti... ORPHA:247691
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Ovoid verteb... OMIM:183900
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Microcephaly, Kyphosis, Obesity OMIM:618443
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Thin calvarium, Midface retrusion, Delayed cranial suture closure, Micrognathia ORPHA:1129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Microcephaly OMIM:606612
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, ... OMIM:300554
Pelger-Huet Anomaly
Frontal bossing, Abnormality of neutrophils, Kyphosis, Neutropenia, Hyposegmentation of neutrophi... OMIM:169400
Immunodeficiency 49
Wormian bones, Lymphopenia, Natal tooth, Micrognathia, Eosinophilia OMIM:617237
3M Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Hyperlordosis, Increased... ORPHA:2616
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Mandibular prognathia, Kyphosis, Delayed puberty, Relative macrocephaly, Abdominal ... OMIM:300354
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Puberty and gonadal disorders, Kyphosis, Microcephaly, Hip dislocation, Obesity ORPHA:464282
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Decreased calvarial ossifi... OMIM:610682
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Jaberi-Elahi Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Joint stiffness, Failure to thrive, Microcephaly OMIM:617988
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Abnormality of circulating leptin level, Abnorma... ORPHA:2298
Cutis Laxa, Autosomal Recessive, Type Iiia
Scoliosis, Wormian bones, Joint hypermobility, Congenital hip dislocation, Frontal bossing, Large... OMIM:219150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Frontal bossing, Large fontanelles, Dysplastic sacrum, Severe platyspondyly, Small... OMIM:613320
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Small for gestation... OMIM:618484
Chondrodysplasia Punctata, Autosomal Dominant
Scoliosis, Epiphyseal stippling, Hypoplasia of the nasal bone, Frontal bossing, Knee flexion cont... OMIM:118650
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Wormian bones, Hyperlordosis, Joint hypermobility, Kyphosis, Hip dislocation, Joint su... OMIM:617821
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Distal joint laxity, Slender build, Joint laxity, Kyphosis, Flexion contracture, Hyper... OMIM:254090
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Frontal bossing, Joint hyperflexibility, Kyphosis, Shoulder dislocation ORPHA:2181
Camurati-Engelmann Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Hyperlordosis, Genu valgum, Abnormality of t... ORPHA:1328
Gaucher Disease Type 1
Osteolysis, Kyphosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed pub... ORPHA:77259
Trisomy 20P
Scoliosis, Platyspondyly, Camptodactyly of finger, Short neck, Frontal bossing, Abnormal form of ... ORPHA:261318
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Slender build, Joint laxity, Genu recurvatum, Mandibular prognathia, Kyphosis, Macrodo... ORPHA:364028
Silver-Russell Syndrome 1
Frontal bossing, Delayed cranial suture closure, Small for gestational age, Micrognathia, Decreas... OMIM:180860
Kenny-Caffey Syndrome, Type 1
Carious teeth, Delayed closure of the anterior fontanelle, Congenital hypoparathyroidism, Decreas... OMIM:244460
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Recurrent patellar dislocation, Arthralgia/arthritis OMIM:314570
Prader-Willi Syndrome
Osteoporosis, Scoliosis, Carious teeth, Genu valgum, Hyperinsulinemia, Kyphosis, Failure to thriv... OMIM:176270
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Increased bone m... ORPHA:800
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Marinesco-Sjogren Syndrome
Scoliosis, Cubitus valgus, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Failure... OMIM:248800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Hyperinsulinemia, Hypergonadotropic hypogonadism, Kyphosis, Type II diabetes melli... ORPHA:3085
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal macrocephaly, Carious teeth, Abnormal circulating follicle-stimulating hormone concentr... ORPHA:93325
Lessel-Kreienkamp Syndrome
Frontal bossing, Plagiocephaly, Wide cranial sutures, Dental malocclusion, Scaphocephaly OMIM:619149
Fountain Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Midface retrusion, Craniofacial hyperostosis, K... ORPHA:3219
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Head titubation, Action tremor, A... ORPHA:99027
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Kyphosis, Delayed puberty, Microcephaly OMIM:180870
Silver-Russell Syndrome
Scoliosis, Premature adrenarche, Failure to thrive in infancy, Delayed cranial suture closure, Re... ORPHA:813
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Decreased proportion of CD4-positive helper T cells, Acetabular dysplasia, Micr... ORPHA:508533
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Kyphosis,... ORPHA:2232
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Frontal bossing, Large fontanelles, Proximal symphalangism of hands, Del... OMIM:151050
Faciocardiomelic Syndrome
Hyperplasia of the maxilla, Large for gestational age, Osteopenia, Cuboid-shaped vertebral bodies... OMIM:612731
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Mandibular prognathia, Kyphosis, Microcephaly, Prominent metopic ridge ORPHA:261144
19P13.12 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Arthrogryposis multiplex congenita, Hypothyroidism, Kyphosis, Brachy... ORPHA:254346
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Saethre-Chotzen Syndrome
Scoliosis, Hyperlordosis, Craniosynostosis, Abnormal form of the vertebral bodies, Plagiocephaly,... ORPHA:794
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Wrinkly Skin Syndrome
Scoliosis, Delayed eruption of teeth, Carious teeth, Wormian bones, Joint hypermobility, Wide ant... OMIM:278250
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Genu valgum, Arthrogryposis multiplex congenita, Short neck, Kyphosis, ... ORPHA:171436
Atypical Werner Syndrome
Increased bone mineral density, Delayed puberty, Type II diabetes mellitus, Micrognathia, Osteopo... ORPHA:79474
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Large fleshy ears, Cupped ear OMIM:249310
Trisomy 9P
Scoliosis, Impacted tooth, Kyphosis, Sacral dimple, Brachycephaly, Microcephaly, Short neck ORPHA:236
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abnormality of the vertebral column, Kyphosis, Hemivertebrae, Spinal rigidity, Abnorma... ORPHA:2062
Marden-Walker Syndrome
Scoliosis, Short neck, Wide anterior fontanel, Radioulnar synostosis, Kyphosis, Camptodactyly, Co... OMIM:248700
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Joint dislocation, Frontal bossing, Kyphosis ORPHA:35173
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger ORPHA:1883
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Camptodactyly of finger, Frontal bossing, Abnormal form ... ORPHA:354
D-Bifunctional Protein Deficiency
Large fontanelles, Frontal bossing, Primary adrenal insufficiency, Dolichocephaly, Delayed crania... OMIM:261515
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypomelanosis Of Ito
Macrocephaly, Microcephaly, Kyphosis, Scoliosis OMIM:300337
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Classical-Like Ehlers-Danlos Syndrome Type 2
Dislocated wrist, Joint hypermobility, Elbow dislocation, Radioulnar dislocation, Phalangeal disl... ORPHA:536532
Ulna Hypoplasia-Intellectual Disability Syndrome
Delayed cranial suture closure, Joint stiffness, Large fontanelles, Elbow dislocation ORPHA:2249
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Platyspo... OMIM:304120
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Cubitus valgus, Biparietal narrowing, Joint hyperflexibility,... ORPHA:85293
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Mandibular prognathia, Kyphosis OMIM:300861
Mend Syndrome
Microretrognathia, Kyphosis, Midface retrusion OMIM:300960
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Oculodentodigital Dysplasia
Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Abnormal ... ORPHA:2710
Thanatophoric Dysplasia Type 2
Platyspondyly, Frontal bossing, Joint hyperflexibility, Kyphosis, Cloverleaf skull, Macrocephaly,... ORPHA:93274
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Distal Tetrasomy 15Q
Scoliosis, Craniosynostosis, Kyphosis, Camptodactyly, Flexion contracture, Large for gestational ... ORPHA:314588
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Delayed closure of the anterior fontanelle, ... OMIM:607812
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Kyphosis, Joint stiffness, Short neck OMIM:252605
De Barsy Syndrome
Delayed eruption of teeth, Delayed closure of the anterior fontanelle, Wormian bones, Congenital ... ORPHA:2962
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Dent Disease 1
Enlargement of the ankles, Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... OMIM:300009
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Wide anterior fontanel, Frontal bossing, Midface retrusion, Kyphosis, Lumbar hyper... OMIM:616482
Baralle-Macken Syndrome
Microcephaly, Kyphosis, Obesity OMIM:619255
4Q21 Microdeletion Syndrome
Scoliosis, Frontal bossing, Large fontanelles, Kyphosis, Short neck ORPHA:238750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Macrocephaly, Platyspondyly, Kyphosis, Osteopetrosis OMIM:618476
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Large fontanelles, Synostosis of carpal bones... OMIM:101200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Frontal bossing, Mandibular prognathia, Kyphosis, Micrognathia ORPHA:3082
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Delayed proximal femoral ep... ORPHA:90674
Thanatophoric Dysplasia Type 1
Platyspondyly, Wide anterior fontanel, Frontal bossing, Kyphosis, Cloverleaf skull, Joint stiffne... ORPHA:1860
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Pigmentary retinopathy, Macrotia, Hearing impairment, Abse... ORPHA:90321
Autosomal Recessive Cutis Laxa Type 2A
Joint hypermobility, Wide anterior fontanel, Frontal bossing, Congenital hip dislocation, Persist... ORPHA:357058
Campomelic Dysplasia
Scoliosis, Short neck, Poorly ossified cervical vertebrae, Kyphosis, Recurrent fractures, Macroce... ORPHA:140
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Midface retrusion, Beaking of vertebral bodies, Kyphosis, Spondylolisth... OMIM:108300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Severe generalized osteoporosis, Delayed cranial suture closure, Hip contracture, Knee flexion co... OMIM:210730
Hartsfield Syndrome
Craniosynostosis, Diabetes insipidus, Hypoplasia of the frontal bone, Microcephaly, Gonadotropin ... OMIM:615465
Harrod Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Failure to thrive, Microcephaly, Dental malocclusion ORPHA:2115
Otofacioosseous-Gonadal Syndrome
Wormian bones, Genu valgum, Frontal bossing, Brachycephaly, Carpal synostosis OMIM:601976
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Platyspondyly, Midface retrusion, Thoracic kyphosis, Flexion contracture, Short ne... OMIM:300232
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Biconcave vertebral bodies, Kyphosis, Obesity, Increased circulating ACTH level, Ab... OMIM:219090
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound o... OMIM:313400
Alstrom Syndrome
Scoliosis, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism,... OMIM:203800
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity, Spinal deformities, Microcephaly OMIM:615084
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
3C Syndrome
Scoliosis, Adrenal hypoplasia, Short neck, Frontal bossing, Kyphosis, Hemivertebrae, Abnormality ... ORPHA:7
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus OMIM:617435
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Limitation of joint mobility ORPHA:3454
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Failure to thrive OMIM:618237
Cohen Syndrome
Scoliosis, Genu valgum, Cubitus valgus, Joint hyperflexibility, Kyphosis, Neutropenia, Failure to... ORPHA:193
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Decreased serum leptin, Osteolytic defects of the phal... ORPHA:280365
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Advanced eruption of teet... ORPHA:2215
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Genu valgum, Finger joint hypermobility, Mandibular prognathia, Kyphosis, Hip contract... OMIM:618493
Aspartylglucosaminuria
Scoliosis, Carious teeth, Abnormal vertebral morphology, Beaking of vertebral bodies, Mandibular ... ORPHA:93
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations