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Gene: Ankrd11 MGI:1924337

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-16
decreased bone mineral density Ankrd11Yod HET Early adult 2.79×10-09
increased total body fat amount Ankrd11Yod HET Early adult 6.54×10-05
increased bone mineral content Ankrd11Yod HET Early adult 5.52×10-09
increased circulating cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.62×10-06
abnormal embryo development Ankrd11tm1b(EUCOMM)Wtsi HOM E9.5 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 vitreous body morphology Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 6.58×10-05
decreased body length Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 2.69×10-07
abnormal auditory brainstem response Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.10×10-12
abnormal head morphology Ankrd11Yod HET   Early adult 9.55×10-06
abnormal retina vasculature morphology Ankrd11Yod HET Early adult 1.43×10-05
preweaning lethality, complete penetrance Ankrd11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

2 Images

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Gross Morphology Embryo E9.5

Images

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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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 predicted to be associated to Ankrd11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Pyle Disease
Thin bony cortex, Genu valgum, Mandibular prognathia, Thickened calvaria, Delayed eruption of tee... OMIM:265900
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... ORPHA:2777
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... ORPHA:2790
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Weill-Marchesani Syndrome 1
Brachycephaly, Thin bony cortex, Spinal canal stenosis, Hypoplasia of the maxilla, Depressed nasa... OMIM:277600
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Mandibular prognathia, Abnormal cortical bone morphology, Generalized osteo... ORPHA:3416
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
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Abnormal cortical bone morphology, Dolichocephaly, Limitation of joint... ORPHA:166277
Ck Syndrome
Retrognathia, Hyperlordosis, Kyphosis, Micrognathia, Abnormal cortical bone morphology, Joint hyp... OMIM:300831
Codas Syndrome
Enamel hypoplasia, Genu valgum, Generalized joint laxity, Lumbar scoliosis, Delayed eruption of t... OMIM:600373
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Achard Syndrome
Brachycephaly, Micrognathia, Joint laxity, Broad skull OMIM:100700
Grant Syndrome
Brachycephaly, Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Frontal bossin... ORPHA:2097
Gnathodiaphyseal Dysplasia
Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteope... ORPHA:53697
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Microcephaly, Joint hyperflexibility, Osteoporosis, Wormian bones ORPHA:2787
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... OMIM:271530
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Abnormality of the knee, Foot acroosteolysis, Abnormal cortical bone morphology, O... ORPHA:970
Winchester Syndrome
Kyphosis, Arthropathy, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal b... OMIM:277950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Abnormal bone ossification, Abnormality of the elbow, Wide anterior fontanel, Abno... ORPHA:163649
Weill-Marchesani Syndrome 2
Brachycephaly, Thin bony cortex, Broad skull, Elbow flexion contracture, Spinal canal stenosis, H... OMIM:608328
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Depressed nasal brid... ORPHA:40
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Failure to thrive, De... OMIM:234250
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Proteus Syndrome
Thin bony cortex, Macrocephaly, Spinal canal stenosis, Dolichocephaly, Facial hyperostosis, Depre... OMIM:176920
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... ORPHA:2635
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Biconcave vertebral bodies, Anterior radial head dislocation, Recurren... OMIM:610967
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Thin bony cortex, Recurrent fractures, Decreased circulating osteocalc... OMIM:619795
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Thickened cortex of bones, Progressive joint destruction, Oste... ORPHA:564003
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... OMIM:130060
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Increased serum serotonin, Depressed nasal bridge, Congenita... ORPHA:85288
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Wide nasal bridge, Hyperexten... OMIM:313420
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Delayed ... OMIM:613849
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Biconc... OMIM:259420
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly, Abnormal form... ORPHA:1802
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Kyphosis, Small for gestational age, Delayed ossification of carpal bones,... OMIM:618392
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Thin bony cortex, Vertebral arch anomaly, Wide anterior fontanel, Micro... ORPHA:85184
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abn... ORPHA:3152
Dysostosis, Stanescu Type
Brachycephaly, Hyperlordosis, Convex nasal ridge, Kyphosis, Massively thickened long bone cortice... ORPHA:1798
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pycnodysostosis
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... ORPHA:763
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Kyphosis, Scoliosis, Abnormality of bone mineral density, Abnormal os... ORPHA:2114
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Pycnodysostosis
Spondylolysis, Prominent nose, Delayed eruption of primary teeth, Micrognathia, Increased bone mi... OMIM:265800
Parastremmatic Dwarfism
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis OMIM:168400
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Turricephaly, Coronal craniosynostosis,... OMIM:616294
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Increased body mass index, Delayed eruption of teeth, Relative macrocephaly, Congenital h... OMIM:614450
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles, Trigonocephaly, Premature adrenarche OMIM:616863
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Convex nasal ridge, Wide nasal bridge, Small for gestational... ORPHA:3369
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Scaphocephaly, Prominent nose, Decreased body weight,... OMIM:614886
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Recurrent fractures, Coronal craniosynostosis, Micrognathia, Midface r... OMIM:112240
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Increased susceptibility t... OMIM:604922
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... OMIM:133780
Gorham-Stout Disease
Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormality of the cervical spine, Os... ORPHA:73
Chondrodysplasia Punctata, Autosomal Dominant
Knee flexion contracture, Hip contracture, Epiphyseal stippling, Frontal bossing, Hypoplasia of t... OMIM:118650
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Wide nasal bridge, Delayed eruption of ... OMIM:277440
Coccidioidomycosis
Osteomyelitis, Granuloma, Arthritis, Broad skull, Osteolysis, Eosinophilia, Abnormality of the ve... ORPHA:228123
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Growth Hormone Insensitivity Syndrome
Hearing impairment, Hypercholesterolemia ORPHA:181393
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Thin bony c... OMIM:259600
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Craniosynostosis 6
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Ri... OMIM:616602
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, L... ORPHA:1486
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Delayed closure of the anterior fontanelle, Convex nasal ridge, Flexion cont... OMIM:614008
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... ORPHA:64753
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Wide nasal bridge, De... ORPHA:2780
Sponastrime Dysplasia
Hip subluxation, Hypothyroidism, Aplasia of the nasal bone, Precocious puberty, Hip dislocation, ... ORPHA:93357
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hip dislocation, Depressed nasal bridge, Scoliosis, Microcephaly OMIM:300434
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... OMIM:264700
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... OMIM:277460
Summitt Syndrome
Wide nose, Camptodactyly of finger, Genu valgum, Plagiocephaly, Depressed nasal ridge, Macrocepha... ORPHA:3210
Bruck Syndrome 1
Knee flexion contracture, Protrusio acetabuli, Increased susceptibility to fractures, Hip contrac... OMIM:259450
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Wide nasal bridge, Small for gestational age, Micrognathia, Frontal bossi... OMIM:614541
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Microcephaly ORPHA:2204
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Wide nasal bridge, Micrognathi... OMIM:617952
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, Wide anterior fontanel, Natal tooth, Macrocephaly... OMIM:269300
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed e... ORPHA:289157
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Micrognathia, Scoliosis, Hy... ORPHA:48431
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Underdeveloped nasal alae, Overhanging nasal tip, Anemia, Hyperextensibility of the finger joints... ORPHA:163979
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Scaphocephaly, Joint contracture of the hand, Wide nasal bridge, ... OMIM:175700
Ataxia-Oculomotor Apraxia 4
Dystonia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterol... OMIM:616267
Alpha-Mannosidosis
Dental malocclusion, Mandibular prognathia, Kyphosis, Arthritis, Type II diabetes mellitus, Macro... ORPHA:61
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... OMIM:166220
Clark-Baraitser syndrome
Genu valgum, Kyphosis, Macrocephaly, Maxillary lateral incisor microdontia, Joint laxity, Frontal... OMIM:300602
Bruck Syndrome
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... ORPHA:2771
Microcephalic Primordial Dwarfism, Montreal Type
Convex nasal ridge, Kyphosis, Micrognathia, Vertebral segmentation defect, Scoliosis, Microcephal... ORPHA:2617
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Delayed eruption... ORPHA:2484
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Wide anterior fontanel, Kyphosis, Micrognathia, Macrocephaly, Large for gestationa... OMIM:618272
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Scoliosis, Calvarial hyperosto... ORPHA:1310
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Cranio-Osteoarthropathy
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Large fontanelles, Joint s... ORPHA:1525
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Increased bone mineral densit... ORPHA:628
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Flynn-Aird Syndrome
Kyphosis, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Scoliosis, Abnormal... ORPHA:2047
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... OMIM:208920
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis OMIM:112350
Craniosynostosis 2
Brachycephaly, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal synostosis, Trigono... OMIM:604757
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Micrognathia, Short nose, Delayed puberty, Scoliosis, Microcephaly ORPHA:2598
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Abnormality of the elbow, Wide anterior fontanel, Kyphosis, Micrognathia... ORPHA:3098
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Mandibular prognathia, Abnormality ... ORPHA:2511
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Bowing of limbs due to multiple fractures, Platybasia, Multiple prenatal fractures, Decreased cal... OMIM:259410
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, Sho... OMIM:601224
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Kyphosis, Macrocephaly, Short nose, Scoliosis, Truncal obesity ORPHA:2429
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Frontal bossing, Rickets, Enlargem... OMIM:600081
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long b... OMIM:607634
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Mandibular prognathia, Irregul... OMIM:231070
Atkin-Flaitz Syndrome
Genu valgum, Kyphosis, Macrocephaly, Maxillary lateral incisor microdontia, Joint laxity, Frontal... OMIM:300431
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Frontal bossing, Rickets, Enlargem... OMIM:241530
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... OMIM:614856
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Wide nasal bridge, Joint contracture of the hand, Small for gestational age, Microg... ORPHA:352490
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide nasal bridge, Delayed eruption of teeth, Kyp... ORPHA:137834
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Wide nasal bridge, Kyphosis, Small for gestational age, Micrognathia, Prominent na... OMIM:615834
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Kyphosis, Frontal bossing, Scoliosis, Obesity ORPHA:276630
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Midface retrusion, Short neck, Advanced tarsal ossificatio... OMIM:251450
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Hip dislocation, Scoliosis, Microcephaly, Obesity, Lumbar hyperlordosis OMIM:616756
Achondroplasia
Short nasal bridge, Wide anterior fontanel, Kyphosis, Flat acetabular roof, Spinal canal stenosis... ORPHA:15
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Thin bony cortex, Wormian bones, Platyspondyly OMIM:619638
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Metatropic Dysplasia
Genu valgum, Flexion contracture, Relatively short spine, Abnormal enchondral ossification, Kypho... OMIM:156530
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Absence of the sacrum, Abnormal trabecular bone mor... ORPHA:79106
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Kyphosis, Hypogonadism, Micrognathia, Short neck, O... ORPHA:3409
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... ORPHA:536516
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Thin bony cortex, Generalized bone demineralization, Rickets of the lowe... OMIM:600785
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Supernumerary tooth, Joint hypermobility, Agenesis of molar, Delayed puberty, Anosmia, ... OMIM:619718
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Trigonocephaly 1
Wide nasal bridge, Short nose, Lumbar hemivertebrae, Microcephaly, Trigonocephaly, Metopic synost... OMIM:190440
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, C... OMIM:144750
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Skull asymmetry, Decreased response to growth hormone stimulation test, Wide anter... OMIM:601853
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Elbow flexion contracture, Hip dislocation, Midface retrusion, Premature osteoar... ORPHA:93360
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Morphological ab... OMIM:182290
Bethlem Myopathy 2
Flexion contracture, Kyphosis, Hip dislocation, Scoliosis, Distal joint laxity OMIM:616471
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Retrognathia, Prominent nose, Limited elbow movement, Joint contracture of the hand, K... OMIM:300280
Fetal Akinesia Deformation Sequence 4
Retrognathia, Wide nasal bridge, Kyphosis, Micrognathia, Camptodactyly, Short neck, Arthrogryposi... OMIM:618393
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Genu valgum, Joint dislocation, Hyperlordosis, Kyphosis, Grayish en... ORPHA:582
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure, Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulat... OMIM:613038
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Lumbar scoliosis, Kyphosis, Camptodactyly, Depressed nasal bridge, Osteope... OMIM:609128
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Midface retrusion, Joint hypermobility, Frontal bossing, Congenital hip dislo... OMIM:612940
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... OMIM:609813
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Sc... OMIM:600175
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Calvarial osteosclerosis, Cortical thickening of long bone diaphy... ORPHA:93324
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Kyphosis, Platyspondyly ORPHA:2786
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Flexion contracture, Fractured radius, Wide nasal bridge, Small for gestational ag... OMIM:616897
Cleidocranial Dysplasia
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... ORPHA:1452
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Recurrent fractures, Wide anterior fontanel, Kyphosis, Joint laxity, P... OMIM:610915
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Prominent metopic ridge, Mandibular prognathia, Scoliosis, Kyphosis ORPHA:85317
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... ORPHA:95717
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Dentinogenesis imperfecta, Protrusio acetabuli, Increased susceptibility to fractu... OMIM:610968
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Scoliosis, Osteoporosis, Kyphosis OMIM:618234
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Aplasia of the nasal bone, Convex nasal ridge, Delayed eruption o... OMIM:601812
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Mandibular prognathia, Large el... OMIM:253000
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Convex nasal ridge, Short nasal bridge, Delayed eruption of primary tee... ORPHA:2409
Sandhoff Disease
Failure to thrive, Macrocephaly, Splenomegaly, Kyphosis ORPHA:796
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Wi... OMIM:113000
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Genu valgum, Mandibular prognathia, Plagiocephaly, Thoracic hemivertebrae, Macroce... OMIM:619721
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Action tremor, Hypercholesterolemia ORPHA:77296
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Small for gestational age, Microretrognathia, Joint hypermobility, Osteopeni... OMIM:616229
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Back pain, Limited elbow movement, Kyphosis, Increased head circumference, Lumbar hy... ORPHA:94068
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Obesity, Delayed puberty, Scoliosis, Microcephaly, ... OMIM:301900
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormal mandible morphology, Hyperpituitarism, Osteolysis, Fibrous dysplasia o... ORPHA:249
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Mandibular prognathia, Prominent nose, Depressed nasal rid... ORPHA:2769
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased ... ORPHA:75840
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Brachycephaly, Wide nasal bridge, Kyphosis, Micrognathia, Depressed... OMIM:615761
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Kyphosis, Macrocephaly, Hypoplasia of the maxilla, Scoliosis, Slender buil... OMIM:300676
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Kyphosis, Micrognathia, Short neck, Scoliosis, Microcephaly, Arthrogryposis multipl... OMIM:611890
Weismann-Netter Syndrome
Anemia, Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormality of the thyroid gland,... ORPHA:3344
Antley-Bixler Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Brachycephaly, Recurrent fractures, Turr... ORPHA:83
Osteogenesis Imperfecta, Type Ii
Convex nasal ridge, Recurrent fractures, Small for gestational age, Multiple prenatal fractures, ... OMIM:166210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Delayed closure of the anterior fontanelle, Spina bifida occulta, Scoliosis, Micro... OMIM:618736
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Delayed eruption of teeth, Turricephaly, Micrognathia, Midface ret... ORPHA:2050
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Isosexual precocious puberty, Joint laxity, Frontal bossin... ORPHA:2788
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Spinal rigidity, Joint hypermobility, Scoliosis OMIM:618323
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology, Microcephaly ORPHA:2512
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Increased susceptibility to fractures, Premature thelarche, Sclerotic cranial sutu... ORPHA:371428
Tenorio Syndrome
Wide nose, Delayed cranial suture closure, Mandibular prognathia, Macrocephaly, Joint laxity, Ost... OMIM:616260
Mcdonough Syndrome
Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ... ORPHA:2471
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Recurrent upper respiratory tract infections, Hypogonadism OMIM:614962
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... OMIM:609220
Smith-Mccort Dysplasia 1
Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head ossification, Kyphosis, Hyp... OMIM:607326
Coffin-Siris Syndrome 6
Retrognathia, Plagiocephaly, Micrognathia, Frontal bossing, Depressed nasal bridge, Kyphoscoliosi... OMIM:617808
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Increased bone mineral density, Stiff knee, Premature osteoarthritis, Short n... ORPHA:93284
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Severe platyspondyly, Small for gestational age, Short nose, Frontal bossing, Depresse... OMIM:613320
Acrodysostosis With Multiple Hormone Resistance
Mandibular prognathia, Decreased response to growth hormone stimulation test, Hypogonadism, Narro... ORPHA:280651
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... ORPHA:95716
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Kyphosis, Hypogonadism, Short nose, Spina bifida occulta, Short neck, Reduced bone m... ORPHA:2983
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Hypogonadism, Joint hyperflexibility, Kyphosis ORPHA:1875
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Mandibular prognathia, Kyphosis, Hypogonadism, Osteopetrosis, Inc... ORPHA:2658
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis, Microcephaly OMIM:617404
Craniosynostosis 4
Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Macrocephaly, M... OMIM:600775
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Plagiocephaly, Depressed nasal ridge, Kyphosis, Wide nasal bridge, Mic... ORPHA:77300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Short neck, Scoliosis OMIM:300718
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed closure of the anterior fontanelle, Hyperextensibility of the finger joints, Delayed erup... OMIM:619797
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Dental malocclusion, Brachycephaly, Wide anterior fontanel, Kypho... OMIM:249420
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia OMIM:616222
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Anterior hypopituitarism, ... ORPHA:2863
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... ORPHA:247585
Calvarial Doughnut Lesions With Bone Fragility
Thickened calvaria, Recurrent fractures, Osteopenia, Scoliosis, Platyspondyly, Carious teeth, Ost... OMIM:126550
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Progressive microcephaly, Kyphosis OMIM:620007
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Kyphosis, Hip dislocation, Short nose, Hepatosplenomegaly, Failure to thrive, Depr... OMIM:608776
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Kyphosis, Dolichocephaly, Short neck, Scoliosis, Prominent nasal bridge, Art... ORPHA:178148
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Galactokinase Deficiency
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hyp... ORPHA:79237
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Ruvalcaba Syndrome
Underdeveloped nasal alae, Kyphosis, Delayed puberty, Narrow nose, Scoliosis, Microcephaly, Limit... OMIM:180870
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Convex nasal ridge, Kyphosis, Micrognathia, Male hypogonadism, Diabetes mellitus, Scoliosis, Join... OMIM:615381
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Head titubatio... ORPHA:3240
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Midface retrusion, Lumbar interpedicular narrowing, Limited elbow extension, Lumbar hyperlordosis... OMIM:271510
Masa Syndrome
Hyperlordosis, Macrocephaly, Microcephaly, Kyphosis OMIM:303350
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Increased intervertebral space, Abnormal enchondral ossification, Kyphosis, Lumbar hy... ORPHA:93314
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Delayed eruption of teeth, Rickets of the lower limbs, Increased bone mineral density... ORPHA:289176
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Kyphosis, Increased circulating cortisol level, Decreased cir... OMIM:610489
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Joint hyperflexibility, Kyphosis, Microcephaly ORPHA:319199
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur... OMIM:166200
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Micrognathia,... OMIM:613848
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Megalocornea-Intellectual Disability Syndrome
Genu varum, Hypothyroidism, Wide nasal bridge, Kyphosis, Micrognathia, Macrocephaly, Frontal boss... ORPHA:2479
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Fused cervical vertebrae, Short neck, ... ORPHA:2522
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Hip dislocation, Osteopenia, Microcephaly, Wormian bones OMIM:616603
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Joint hypermobility, Scoliosis, Platyspondyly, Osteoporosis, Wormian bones OMIM:619131
Lateral Meningocele Syndrome
Hyperlordosis, Kyphosis, Micrognathia, Craniofacial hyperostosis, Dolichocephaly, Short neck, Joi... ORPHA:2789
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Wide anterior fo... ORPHA:85199
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Narrow nasal ridge, Hip dislocation, Joint hypermobility, Frontal bossing, Congeni... OMIM:219150
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Genu valgum, Mandibular prognathia, Kyphosis, Grayish enamel, Ulnar deviation of t... OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Brachycephaly, Thin bony cortex, Mandibular prognathia, Recurrent fractures, Hyperextensibility o... OMIM:309583
Pseudoleprechaunism Syndrome, Patterson Type
Genu valgum, Prominent nose, Increased circulating androgen concentration, Abnormal mandible cond... ORPHA:2976
Crisponi Syndrome
Wide nose, Camptodactyly of finger, Flexion contracture, Kyphosis, Micrognathia, Limitation of jo... ORPHA:1545
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Flexion contracture, Multiple joint contractures, Kyphosis, Micrognathia, Macrocep... OMIM:618291
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cleidocranial Dysplasia 1
Wide nasal bridge, Micrognathia, Increased bone mineral density, Hip dislocation, Midface retrusi... OMIM:119600
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Micrognathia, Synostosis of carpal bones, Type II diabetes mellitus, Short neck, Scolio... ORPHA:3191
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Small for gestational age, Macrocephaly, Premature posterior fontanelle c... ORPHA:488437
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Achilles tendon contracture, ... OMIM:615290
Myofibrillar Myopathy 10
Knee flexion contracture, Mandibular prognathia, Kyphosis, Elbow flexion contracture, Flexion con... OMIM:619040
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Brachycephaly, Parietal foramina, Kyph... OMIM:603116
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micro... OMIM:610475
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Broad nasal tip, Wide nasal bridge OMIM:618658
Thanatophoric Dysplasia
Kyphosis, Macrocephaly, Midface retrusion, Frontal bossing, Cloverleaf skull, Depressed nasal bri... ORPHA:2655
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Hyperinsulinemia, Flexion contracture, Narrow nasal ridge, Acroos... OMIM:608612
Pseudoachondroplasia
Genu varum, Genu valgum, Kyphosis, Ulnar deviation of the wrist, Lumbar hyperlordosis, Osteoarthr... OMIM:177170
Osteogenesis Imperfecta, Type Xx
Retrognathia, Brachycephaly, Mandibular prognathia, Plagiocephaly, Midface retrusion, Vertebral c... OMIM:618644
Sjögren-Larsson Syndrome
Kyphosis, Microcephaly, Scoliosis, Joint stiffness, Abnormal dental enamel morphology ORPHA:816
Stickler Syndrome, Type I
Morbus Scheuermann, Arthropathy, Kyphosis, Micrognathia, Arthritis, Midface retrusion, Joint hype... OMIM:108300
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Sea-blue histiocytosis, Hypoplastic vertebral bodies, Failure to thrive, Scolio... OMIM:230600
Schaaf-Yang Syndrome
Retrognathia, Mandibular prognathia, Flexion contracture, Kyphosis, Hypogonadism, Camptodactyly, ... OMIM:615547
Smith-Magenis Syndrome
Conductive hearing impairment, EEG abnormality, Hypercholesterolemia, Retinal detachment, Hypertr... ORPHA:819
Osteogenesis Imperfecta
Brachycephaly, Convex nasal ridge, Flexion contracture, Delayed eruption of teeth, Micrognathia, ... ORPHA:666
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circu... OMIM:219080
Van Maldergem Syndrome 1
Sacral dimple, Dental malocclusion, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Camp... OMIM:601390
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Hypothyroidism, Wide nasal bridge, Hip dislocation, Short nose, Failure to thrive, ... OMIM:618005
Hallermann-Streiff Syndrome
Brachycephaly, Micrognathia, Scaphocephaly, Dolichocephaly, Supernumerary tooth, Frontal bossing,... OMIM:234100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Pelger-Huet Anomaly
Kyphosis, Macrocephaly, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Fronta... OMIM:169400
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Micrognathia, Midface retrusion, Frontal bossing, Short nose, Thi... ORPHA:1129
Marbach-Rustad Progeroid Syndrome
Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Midface re... OMIM:619322
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Prominent oc... ORPHA:955
Menkes Disease
Brachycephaly, Joint laxity, Microcephaly, Osteoporosis, Wormian bones OMIM:309400
19P13.12 Microdeletion Syndrome
Brachycephaly, Hypothyroidism, Precocious puberty, Kyphosis, Narrow nasal bridge, Short neck, Sco... ORPHA:254346
Lateral Meningocele Syndrome
Vertebral fusion, Biconcave vertebral bodies, Short nasal bridge, Kyphosis, Micrognathia, Dolicho... OMIM:130720
Dysosteosclerosis
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Irregular vert... OMIM:224300
Caffey Disease
Joint hypermobility, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis,... OMIM:114000
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Pr... ORPHA:357058
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wide anterior fontanel, Wormian bones, Platyspondyly OMIM:601356
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Kyphosis, Short nose, Depressed nasal bridge, Scoliosis, Microcephaly, Pro... ORPHA:261144
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic disc pallor, Optic atrophy OMIM:609541
Kleefstra Syndrome 2
Plagiocephaly, Kyphosis, Midface retrusion, Scoliosis, Microcephaly OMIM:617768
O'Donnell-Luria-Rodan Syndrome
Macrocephaly, Dolichocephaly, Kyphosis OMIM:618512
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... OMIM:102500
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Retrognathia, Delayed cranial suture closure, Prominent nose, Wide nasal bridge, Micro... ORPHA:2995
3M Syndrome
Hyperlordosis, Increased vertebral height, Abnormality of the elbow, Kyphosis, Delayed eruption o... ORPHA:2616
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Kyphosis, Delayed eruption of teeth OMIM:141300
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Wieacker-Wolff Syndrome
Retrognathia, Hyperlordosis, Congenital foot contractures, Kyphosis, Micrognathia, Camptodactyly,... OMIM:314580
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteolytic defects of the phalanges of the hand, Arthropathy, Arthritis, Limitation of joint mobi... OMIM:259100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Kyphosis, Hypogonadism, Relative macrocephaly, Joint laxity, Depressed nas... OMIM:300354
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Prominent nose, Abnormality of the elbow, Kyphosis, Turricephaly, Vertebral segmentation defect, ... ORPHA:1005
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Oculodentodigital Dysplasia
Underdeveloped nasal alae, Camptodactyly of finger, Mandibular prognathia, Madelung deformity, Mi... ORPHA:2710
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Severe platyspondyly, T lymphocytopenia, Micrognathia, Elbow flexion contracture, Decreased propo... ORPHA:508533
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar dislocation, Kyphosis, Elbow dis... ORPHA:2916
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Flexion contracture, Kyphosis OMIM:618237
Fgfr2-Related Bent Bone Dysplasia
Metopic depression, Natal tooth, Coronal craniosynostosis, Micrognathia, Midface retrusion, Hepat... ORPHA:313855
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic disc pallor, Optic atrophy ORPHA:320406
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Dolichocephaly, Scoliosis, Kyphosis ORPHA:1548
Craniolenticulosutural Dysplasia
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Wide nasal bridge, Delayed er... OMIM:607812
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Kyphosis, Small for gestational age, Flexion contracture of finger, Kyphosco... OMIM:618484
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Flexion contracture, Hip contracture, Kyphosis, Achilles tendon contracture, Hip d... OMIM:301041
Idiopathic Juvenile Osteoporosis
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis ORPHA:85193
Mandibuloacral Dysplasia With Type A Lipodystrophy
Delayed cranial suture closure, Hyperinsulinemia, Convex nasal ridge, Flexion contracture, Narrow... OMIM:248370
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Sacral dimpl... ORPHA:3206
Sialidosis Type 2
Splenomegaly, Flexion contracture, Osteoporosis, Kyphosis ORPHA:87876
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed cranial suture closure, Flexion contracture, Plagiocephaly, Wide nasal bridge, Short nose... OMIM:619383
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Scoliosis, Kyphosis ORPHA:1858
Lessel-Kreienkamp Syndrome
Dental malocclusion, Scaphocephaly, Plagiocephaly, Wide nasal bridge, Frontal bossing, Wide crani... OMIM:619149
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Kyphosis, Macrocephaly, Broad nasal tip, Scoliosis... OMIM:617190
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Hyposmia, Anosmia, Obesity OMIM:617885
Pachydermoperiostosis
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Li... ORPHA:2796
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... OMIM:151050
Faciocardiomelic Syndrome
Dental malocclusion, Thin bony cortex, Micrognathia, Cuboid-shaped vertebral bodies, Hyperplasia ... OMIM:612731
Parietal Foramina 1
Parietal foramina, Macrocephaly, Wormian bones OMIM:168500
Dyggve-Melchior-Clausen Disease
Genu varum, Genu valgum, Mandibular prognathia, Thickened calvaria, Kyphosis, Thoracic kyphosis, ... OMIM:223800
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Thoracic kyphosis, Hypoplasia of the odontoid process, Midface retrusion, De... OMIM:300232
Van Maldergem Syndrome 2
Hip subluxation, Dental malocclusion, Sacral dimple, Wide anterior fontanel, Wide nasal bridge, M... OMIM:615546
Apert Syndrome
Delayed cranial suture closure, Brachycephaly, Humeroradial synostosis, Delayed eruption of teeth... OMIM:101200
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Relative macrocephaly, Macrocephal... OMIM:239000
Saethre-Chotzen Syndrome
Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Convex nasal ridge, Plagiocephaly, ... ORPHA:794
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Kyphosis, Small for gestational age, Joint... ORPHA:94065
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Camurati-Engelmann Disease
Hyperlordosis, Genu valgum, Leukopenia, Anemia, Slender build, Kyphosis, Delayed eruption of teet... ORPHA:1328
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Kyphosis, Macrocephaly, Frontal bossing, Cloverleaf skull, Depressed nasa... ORPHA:1860
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... ORPHA:85188
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Kyphosis, Micrognathia, Joint hypermobility, Depressed nasal bridge, Sco... OMIM:619951
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Decreased body weight, Micro... ORPHA:79474
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Hyperparathyroidism, Transient Neonatal
Brachycephaly, Short nasal bridge, Recurrent fractures, Wide nasal bridge, Splenic cyst, Frontal ... OMIM:618188
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Mandibular prognathia, Depressed nasal ridge, Weight loss... ORPHA:354
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Frontal bossing, Scoliosis, Joint hyperflexibility ORPHA:2181
Trisomy 20P
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Kyphosis, Micrognathia, Vertebral segmenta... ORPHA:261318
Kbg Syndrome
Underdeveloped nasal alae, Vertebral fusion, Prominent nasal bridge, Thoracic kyphosis, Short nec... ORPHA:2332
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly OMIM:230650
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Wide nasal bridge, Kyphosis, Spinal rigidity, Micrognathia, Depressed nasal bridge... ORPHA:2062
Insulin-Resistance Syndrome Type B
Leukopenia, Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight l... ORPHA:2298
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Puberty and gonadal disorders, Scoliosis, Microcephaly, Obesity ORPHA:464282
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplasia of the odontoid proc... OMIM:183900
Grant Syndrome
Micrognathia, Wormian bones OMIM:138930
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
D-Bifunctional Protein Deficiency
Retrognathia, Delayed cranial suture closure, Scaphocephaly, Micrognathia, Macrocephaly, Dolichoc... OMIM:261515
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Kyphosis, Vertebral segmentation defect, Macrocephaly, Prominent occiput... ORPHA:2311
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Mandibuloacral Dysplasia
Delayed cranial suture closure, Hyperinsulinemia, Contractures of the large joints, Acroosteolysi... ORPHA:2457
Gaucher Disease Type 1
Leukopenia, Anemia, Kyphosis, Increased bone mineral density, Hypersplenism, Pancytopenia, Osteol... ORPHA:77259
Ruvalcaba Syndrome
Convex nasal ridge, Abnormality of the elbow, Kyphosis, Synostosis of carpal bones, Short nose, D... ORPHA:3121
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Enlargement... OMIM:300554
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Prominent nose, Kyphosis, Hypogonadism, Cachexia, Biparietal narrowing, ... ORPHA:85293
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scolio... OMIM:606612
Ullrich Congenital Muscular Dystrophy 1
Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased laxity of fingers, Spinal ... OMIM:254090
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly, Mandibular prognathia, Macrodontia of permanent maxillary central incisor, Kyphosi... ORPHA:364028
Autosomal Dominant Kenny-Caffey Syndrome
Delayed cranial suture closure, Anemia, Calvarial osteosclerosis, Cortical thickening of long bon... ORPHA:93325
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Macrocephaly, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal scl... OMIM:618476
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Macular edema, Apathy, Retinal cotton wool spot, Retinal neovascularization... ORPHA:247691
Hurler Syndrome
Biconcave vertebral bodies, Flexion contracture, Wide nasal bridge, Kyphosis, Hypoplasia of the o... OMIM:607014
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Thanatophoric Dysplasia Type 2
Kyphosis, Macrocephaly, Limitation of joint mobility, Frontal bossing, Cloverleaf skull, Depresse... ORPHA:93274
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
4Q21 Microdeletion Syndrome
Kyphosis, Frontal bossing, Depressed nasal bridge, Short neck, Large fontanelles, Scoliosis ORPHA:238750
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... ORPHA:800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed cranial suture closure, Midface retrusion, Thyroid hypoplasia, Large posterior fontanelle... ORPHA:226307
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Hyperinsulinemia, Kyphosis, Type II diabetes mellitus, Hypergonadotropic hypogonad... ORPHA:3085
Zimmermann-Laband Syndrome 2
Underdeveloped nasal alae, Kyphosis, Prominent nasal septum, Short neck, Bifid nasal tip OMIM:616455
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Wide anterior fontanel,... OMIM:610682
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Scoliosis, Kyphosis OMIM:300861
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Marshall-Smith Syndrome
Decreased body weight, Atlantoaxial dislocation, Midface retrusion, Prominent occiput, Choanal at... OMIM:602535
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Thoracolumbar scoliosis, Genu valgum, Joint dislocation, Hyperlordosis,... OMIM:618019
Marden-Walker Syndrome
Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Micrognathia, Radioulnar synosto... OMIM:248700
Silver-Russell Syndrome
Delayed cranial suture closure, Precocious puberty, Micrognathia, Cachexia, Relative macrocephaly... ORPHA:813
Campomelic Dysplasia
Tracheobronchomalacia, Recurrent fractures, Kyphosis, Micrognathia, Macrocephaly, Hip dislocation... ORPHA:140
Marinesco-Sjogren Syndrome
Flexion contracture, Kyphosis, Failure to thrive, Scoliosis, Hypergonadotropic hypogonadism, Micr... OMIM:248800
Fibrochondrogenesis 1
Wide anterior fontanel, Joint contracture of the hand, Camptodactyly, Widely patent sagittal sutu... OMIM:228520
Wrinkly Skin Syndrome
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Scaphocephaly, Wide a... OMIM:278250
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Craniosynostosis, Midface retrusion, Joint hypermobility, Failure to thrive, Broad nasa... OMIM:618050
Trisomy 9P
Sacral dimple, Brachycephaly, Kyphosis, Abnormal nasal morphology, Short neck, Scoliosis, Microce... ORPHA:236
Silver-Russell Syndrome 1
Delayed cranial suture closure, Decreased response to growth hormone stimulation test, Small for ... OMIM:180860
Typical Nemaline Myopathy
Genu varum, Genu valgum, Flexion contracture, Hyperlordosis, Kyphosis, Spinal rigidity, Micrognat... ORPHA:171436
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Kyphosis, Scoliosis, Joint contracture of the 5th finger, Carious teeth ORPHA:1883
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Decreased serum estradiol, Kyphosis, Absence of secondary sex char... ORPHA:2232
Hypomelanosis Of Ito
Macrocephaly, Scoliosis, Kyphosis, Microcephaly OMIM:300337
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, Cupped ear, Hypercholesterolemia OMIM:249310
Immunodeficiency 49
T lymphocytopenia, Natal tooth, Micrognathia, Decreased proportion of naive CD4 T cells, Lymphope... OMIM:617237
3C Syndrome
Wide nasal bridge, Kyphosis, Micrognathia, Macrocephaly, Prominent occiput, Short nose, Frontal b... ORPHA:7
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Harrod Syndrome
Dental malocclusion, Kyphosis, Failure to thrive, Joint hyperflexibility, Scoliosis, Long nose, M... ORPHA:2115
De Barsy Syndrome
Brachycephaly, Delayed closure of the anterior fontanelle, Generalized joint laxity, Delayed erup... ORPHA:2962
Ogden Syndrome
Underdeveloped nasal alae, Delayed cranial suture closure, Enlarged naris, Microretrognathia, Fro... ORPHA:276432
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... ORPHA:1134
Distal Tetrasomy 15Q
Retrognathia, Flexion contracture, Kyphosis, Micrognathia, Camptodactyly, Large for gestational a...