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Gene: Itpk1 MGI:2446159

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inositol 1,3,4-triphosphate 5/6 kinase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itpk1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itpk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly ORPHA:93304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... OMIM:271630
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Missing ribs, Hyperlordosis, Short neck, Abnormal sacrum morphology, Short ... ORPHA:1797
Ichthyosis--Cheek--Eyebrow Syndrome
Abnormal thorax morphology, Kyphoscoliosis OMIM:146720
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida ORPHA:64754
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression, Costal cartilag... OMIM:222600
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Short stature, Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Spondyloepiphyseal Dysplasia, Stanescu Type
Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies OMIM:616583
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Acropectorovertebral Dysplasia
Pectus excavatum, Spina bifida ORPHA:957
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Thoracic kyphoscoliosis, Back pain, Kyphoscoliosis, Short neck, H... OMIM:613330
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Abnormal vertebral morphology, Kyphoscoliosis, Short neck ORPHA:96183
Camptodactyly Syndrome, Guadalajara Type 1
Scapular winging, Sacral dimple, Short stature, Spina bifida, Pectus excavatum, Abnormal form of ... ORPHA:1327
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, Absent or minimally os... ORPHA:66637
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Myotonia With Skeletal Abnormalities And Mental Retardation
Short stature, Kyphoscoliosis, Vertebral wedging, Pectus carinatum, Bell-shaped thorax OMIM:255710
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped r... OMIM:156530
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... OMIM:122600
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Joint Laxity, Short Stature, And Myopia
Short stature, Cervical kyphosis, Kyphoscoliosis, Pectus carinatum, Umbilical hernia OMIM:617662
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis OMIM:612847
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper... ORPHA:2839
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Short stature, Kyphoscoliosis OMIM:600384
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Seckel Syndrome 8
Spinal cord compression, Short stature, Kyphoscoliosis OMIM:615807
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Bell-sha... ORPHA:1393
Basilar Impression, Primary
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... ORPHA:1354
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation d... OMIM:609813
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Kyphosis, Hydrocephalus, Abnormal ... ORPHA:2635
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Hyperekplexia 4
Umbilical hernia, Kyphoscoliosis OMIM:618011
Fountain Syndrome
Short stature, Spina bifida, Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, S... ORPHA:3219
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce... OMIM:182940
Joubert Syndrome 18
Occipital encephalocele, Kyphoscoliosis, Intrauterine growth retardation OMIM:614815
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short stature, Short nec... ORPHA:2311
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Scoliosis, Spinal rigidity OMIM:620386
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Short stature, Kyphoscoliosis ORPHA:3433
Congenital Myopathy 23
Scapular winging, Kyphoscoliosis OMIM:609285
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Dysspondyloenchondromatosis
Short stature, Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospon... ORPHA:85198
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short stature, Missing r... OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Kyphoscoliosis OMIM:300886
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased... OMIM:616817
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short stature, Kyphoscoliosis, Hyperlordosis, Short thorax, Disproportionate short stature, Irreg... OMIM:618363
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Joubert Syndrome 15
Exencephaly OMIM:614464
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Sirenomelia
Absence of the sacrum, Spina bifida, Sirenomelia ORPHA:3169
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Waardenburg Syndrome Type 1
Sprengel anomaly, Meningocele, Scoliosis, Spina bifida ORPHA:894
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology, Spina bifida ORPHA:1120
Leukodystrophy, Hypomyelinating, 17
Growth delay, Kyphoscoliosis OMIM:618006
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemiverteb... OMIM:109400
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Disproportionate short s... ORPHA:1801
Proteus Syndrome
Spinal cord compression, Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... OMIM:608681
Monosomy 18P
Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Enlarged thorax, Holoprosencephaly ORPHA:1598
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis OMIM:300915
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Kyphosis, Spinal co... ORPHA:2522
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Kyphoscoliosis OMIM:615541
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Short stature, Kyphoscoliosis OMIM:614727
Roussy-Lévy Syndrome
Kyphoscoliosis, Scoliosis ORPHA:3115
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Cupped ribs, Degeneration of anterior hor... ORPHA:1145
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck OMIM:277720
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disproportionate short-... OMIM:259440
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis ORPHA:496689
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Short stature, Spina bifida, Pectus ex... OMIM:161200
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis OMIM:617977
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Disproportionate short-trunk shor... OMIM:184252
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Syringomyelia, Kyphoscoliosis OMIM:614846
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis OMIM:616668
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Scoliosis, Spina bifida, Short neck OMIM:616038
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis OMIM:619542
Foxg1 Syndrome
Severe postnatal growth retardation, Kyphoscoliosis, Short stature, Scoliosis ORPHA:561854
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anence... ORPHA:63259
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Rhizomelia, Kyphoscoliosis, Disproportionate short-trunk short stature, Abno... ORPHA:263463
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis OMIM:607855
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Short stature, Cervical kyphosis, Shoulder flexion contracture, Kyphoscolio... OMIM:255800
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis ORPHA:536516
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Down-sloping shoulders, Kyphoscolio... OMIM:114300
Spondylometaphyseal Dysplasia, Axial
Short stature, Anterior rib cupping, Rhizomelia, Disproportionate short-trunk short stature, Plat... OMIM:602271
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Down-sloping shoulders, Kyphoscoliosis, Short neck, Pectus excavatum, Proportionate short stature... ORPHA:391408
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis ORPHA:300179
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis OMIM:180800
Anauxetic Dysplasia 2
Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, P... OMIM:617396
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... ORPHA:573278
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis ORPHA:370980
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Severe short stature, Rhizomelia, Kyphoscoliosis OMIM:215100
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Tethered cord, Myelomeningocele, Meni... OMIM:600145
Spondyloepiphyseal Dysplasia Tarda
Barrel-shaped chest, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscolios... ORPHA:93284
Richieri Costa-Da Silva Syndrome
Short stature, Kyphoscoliosis, Short neck, Vertebral wedging, Pectus carinatum, Decreased anterio... ORPHA:3101
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis OMIM:600118
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Thin ribs, Platyspondyly, Intrauterin... OMIM:300863
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Spina bifida, Myelomeningocele, Abnormal thorax morp... ORPHA:2369
Osteogenesis Imperfecta, Type Xiii
Short stature, Kyphoscoliosis, Pectus carinatum, Enlarged thorax, Platyspondyly, Scoliosis, Umbil... OMIM:614856
Coffin-Siris Syndrome 6
Pectus excavatum, Short stature, Kyphoscoliosis OMIM:617808
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Short stature, Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebra... OMIM:603546
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Achondrogenesis Type 1B
Severe short stature, Short neck, Short thorax, Abnormal rib morphology, Disproportionate short s... ORPHA:93298
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Abnormal spinal cord morphology, Spinal arteriovenous malfor... ORPHA:53721
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis OMIM:614707
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Mild pos... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... OMIM:300232
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele, Missing ribs ORPHA:1759
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Intrauterine growth retardation, Kyphoscoliosis OMIM:610756
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis OMIM:618230
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk s... OMIM:113500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Short stature, Spinal dysraphism, Butterfly vertebrae OMIM:617660
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... ORPHA:3412
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Diabetic Embryopathy
Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism ORPHA:1926
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Kyphosis, Hypoplasia of the odontoid process, ... OMIM:253000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis OMIM:118220
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... ORPHA:3041
Scholte Syndrome
Kyphoscoliosis OMIM:300977
Cole-Carpenter Syndrome
Communicating hydrocephalus, Short stature, Kyphosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2050
Trisomy 20P
Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation... ORPHA:261318
Mosaic Trisomy 9
Spina bifida, Short neck, Hemivertebrae, Supernumerary ribs, Scoliosis, Intrauterine growth retar... ORPHA:99776
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis OMIM:604563
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of ... OMIM:253200
Phaver Syndrome
Myelomeningocele, Abnormal rib morphology, Abnormal form of the vertebral bodies, Intrauterine gr... ORPHA:2876
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Asymmetry of the thorax, Narrow chest, Disproportionate short-limb short stature,... OMIM:618644
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Flared, irregular rib ends ORPHA:168555
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Postnatal growth retardation, Rib fusion, Hemiverteb... OMIM:304050
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Scoliosis, Spinal dysraphism OMIM:612918
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis ORPHA:99950
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retar... OMIM:611209
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Sco... ORPHA:2180
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Short stature ORPHA:1513
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Short stature, Kyphoscoliosis, Delayed puberty OMIM:612079
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck ORPHA:2578
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Pectus excavatum, Proportionate short stature, Thin ribs, Abnormal r... OMIM:234100
Arthrogryposis, Distal, Type 2A
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Postnatal growth retardation, Scoliosis... OMIM:193700
Ulnar Hemimelia
Hypoplastic scapulae, Glenoid fossa hypoplasia, Spinal dysraphism, Scoliosis, Butterfly vertebrae ORPHA:93320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short stature, Kyphoscoliosis, Moderately short stature, Irregular vertebral endplates, Platyspon... OMIM:612350
Allan-Herndon-Dudley Syndrome
Pectus excavatum, Short stature, Kyphoscoliosis ORPHA:59
Osteogenesis Imperfecta, Type Xi
Short stature, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebra... OMIM:610968
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypoplastic scapulae, A... OMIM:114290
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis OMIM:118200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Pectus excavatum, Pectus carinatum, Scoliosis, Biconcave vertebral bodies OMIM:236200
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Meningocele, Abnormal r... ORPHA:991
Carpenter Syndrome
Umbilical hernia, Kyphoscoliosis ORPHA:65759
Emanuel Syndrome
Sacral dimple, Kyphoscoliosis, Hydrocephalus, Growth delay, Supernumerary ribs, Scoliosis, Intrau... ORPHA:96170
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Spina bifida, Short neck, Hydrocephalus, Scoliosis, Umbilical hernia OMIM:613776
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Scoliosis OMIM:145900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Kyphoscoliosis ORPHA:3077
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural t... ORPHA:268810
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Short neck, Abnormal rib morphology, Platyspondyly, Nar... ORPHA:93267
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Kyphoscoliosis ORPHA:96190
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:1506
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Abnormality of the vertebral column, Short stature, Kyphoscoliosis OMIM:610758
Phakomatosis Pigmentokeratotica
Scoliosis, Spina bifida ORPHA:2874
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Short stature, Scoliosis ORPHA:391307
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Neurofibromatosis, Type I
Short stature, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Scoliosis OMIM:162200
Cat-Eye Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Short stature ORPHA:195
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis ORPHA:459033
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Kyphoscoliosis ORPHA:412035
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyl... ORPHA:93360
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis OMIM:616470
Central Core Disease
Kyphoscoliosis ORPHA:597
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Pectus excavatum, Disproportionate short stature, Platyspondyly, Cervical instabi... OMIM:617425
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Postnatal growth retardation, Abnormal rib ... OMIM:192350
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Scoliosis OMIM:616354
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Trisomy 18
Short stature, Spina bifida, Abnormal rib morphology, Anencephaly, Growth delay, Holoprosencephal... ORPHA:3380
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Short neck, Short thorax, Narrow chest, Umbilical h... ORPHA:93299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Intrauterine growth retardation, Abnormally ossified vertebrae, Abnormal rib... ORPHA:3035
19P13.3 Microduplication Syndrome
Growth delay, Intrauterine growth retardation, Kyphoscoliosis ORPHA:447980
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Jeune Syndrome
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster... ORPHA:474
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Short stature, Scoliosis, Thin ribs OMIM:615220
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Short stature, Kyphoscoliosis OMIM:604168
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphoscoliosis, Platyspondyly OMIM:184253
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Kyphoscoliosis OMIM:607371
Leopard Syndrome 1
Scapular winging, Short stature, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Pect... OMIM:151100
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis OMIM:214400
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Kyphoscoliosis, Pectus excavatum, Postnatal growth retardation, Intrauterine growt... OMIM:612513
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Hydrocephalus, Thin ribs, Platyspondyly, Intrauterine growth retardation ORPHA:163966
Cooper-Jabs Syndrome
Short stature, Missing ribs, Abnormal rib morphology, Scoliosis, Umbilical hernia ORPHA:1488
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Rhizomelia, Flaring of l... ORPHA:175
Autosomal Recessive Spastic Paraplegia Type 23
Short stature, Kyphoscoliosis ORPHA:101003
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Ant... ORPHA:35173
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2234
Galloway-Mowat Syndrome 7
Pectus excavatum, Short stature, Kyphoscoliosis OMIM:618348
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis ORPHA:37612
Rahman Syndrome
Kyphoscoliosis OMIM:617537
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Abnormal rib morphology ORPHA:2643
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short stature, Spina ... ORPHA:508498
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Postnatal growth retardation, Large placenta, Bell-shaped thorax, Coa... ORPHA:254519
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility OMIM:208230
Juberg-Hayward Syndrome
Severe short stature, Abnormal rib morphology, Scoliosis, Intrauterine growth retardation, Abnorm... ORPHA:2319
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Short stature, Kyphoscoliosis ORPHA:75496
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis OMIM:260600
Spinocerebellar Ataxia, Autosomal Recessive 31
Pectus excavatum, Growth delay, Lumbar kyphoscoliosis OMIM:619422
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short stature, Severe short stature, Hyperlordosis, Short... OMIM:612921
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Hydrocephalus,... OMIM:187600
Kagami-Ogata Syndrome
Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs OMIM:608149
Spastic Paraplegia 20, Autosomal Recessive
Short stature, Kyphoscoliosis OMIM:275900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis OMIM:214150
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Abnormal thorax morphology,... OMIM:302960
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Scoliosis, Short neck OMIM:300055
3M Syndrome
Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis,... ORPHA:2616
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Kyphoscoliosis, Disproportionate short-trunk short stature, Platyspondyly, ... ORPHA:93316
Cloacal Exstrophy
Myelomeningocele, Hemivertebrae, Spina bifida ORPHA:93929
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis OMIM:617105
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pe... OMIM:184250
Femoral-Facial Syndrome
Short stature, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segment... ORPHA:1988
Focal Dermal Hypoplasia
Spina bifida, Short ribs, Scoliosis, Short clavicles, Umbilical hernia ORPHA:2092
Neu-Laxova Syndrome
Intrauterine growth retardation, Scoliosis, Spina bifida ORPHA:2671
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,... OMIM:609616
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Pectus excavatum, Postnatal gr... ORPHA:536467
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Disproportio... OMIM:253010
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Cole-Carpenter Syndrome 2
Short stature, Pectus excavatum, Kyphosis, Hydrocephalus, Postnatal growth retardation, Thin ribs... OMIM:616294
Intellectual Developmental Disorder, Autosomal Recessive 78
Pectus excavatum, Narrow chest, Kyphoscoliosis OMIM:620237
Grant Syndrome
Short stature, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoi... ORPHA:2097
Ane Syndrome
Motor neuron atrophy, Short stature, Kyphoscoliosis, Delayed puberty ORPHA:157954
Contractural Arachnodactyly, Congenital
Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Pectus carinatum, Scoliosis OMIM:121050
Geroderma Osteodysplasticum
Severe short stature, Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplat... OMIM:231070
Jacobsen Syndrome
Short stature, Spina bifida, Missing ribs, Short neck, Abnormal form of the vertebral bodies, Gro... ORPHA:2308
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis OMIM:617664
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Kyphoscoliosis, Short neck, Growth delay, Scoliosis, Umbilical hernia, Intraute... OMIM:618947
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate short stature, Kyphoscoliosis ORPHA:404443
Larsen-Like Syndrome
Short stature, Kyphoscoliosis OMIM:608545
Mucopolysaccharidosis Type 4
Short stature, Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal... ORPHA:582
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Short stature, Kyphoscoliosis, Pectus excavatum, Cervical spine instability, Platyspondyly OMIM:615349
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Narrow chest, Short stature, Abnormality of the costochondral junction... ORPHA:96334
Acrootoocular Syndrome
Pectus excavatum, Short stature, Kyphoscoliosis ORPHA:2980
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebra... OMIM:607944
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin... OMIM:151210
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Thin ribs, Narrow chest, Abnor... OMIM:200980
Cardiac-Valvular Ehlers-Danlos Syndrome
Short stature, Thoracolumbar scoliosis, Recurrent shoulder dislocation, Kyphoscoliosis, Pectus ex... ORPHA:230851
Axial Mesodermal Dysplasia Spectrum
Short stature, Missing ribs, Short neck, Hydrocephalus, Abnormal rib morphology, Abnormal form of... ORPHA:1834
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Pectus carinatum, Scoliosis, Vertebr... OMIM:309583
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Fibular Hemimelia
Thoracoabdominal wall defect, Spina bifida ORPHA:93323
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... OMIM:200600
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Kyphoscoliosis, Pectus excavatum, Short neck, Hydrocephalus, Postnat... OMIM:304120
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short stature ORPHA:2772
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Scoliosis OMIM:619574
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Exencephaly ORPHA:2211
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Thoracic scoliosis, Normal pressure hydrocephalus, Kyphoscoliosis ORPHA:300570
Monosomy 18Q
Short stature, Kyphoscoliosis, Pectus excavatum, Hydrocephalus, Growth delay, Atlantoaxial abnorm... ORPHA:1600
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:93941
Osteogenesis Imperfecta, Type Xvii
Short stature, Kyphoscoliosis, Platyspondyly, Syringomyelia, Vertebral compression fracture OMIM:616507
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum ORPHA:3082
Lethal Congenital Contracture Syndrome Type 1
Short stature, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Spina bifida, Hyperlordosis, Pectus excavatum, Kyphosis, Hydrocephalus, Postnatal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Spina bifida, Hyperlordosis, Pectus excavatum, Kyphosis, Hydrocephalus, Postnatal ... ORPHA:363958
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Short neck, Abnormal rib morphology, Abnormal form of the ve... ORPHA:2021
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Sh... ORPHA:457395
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, De... ORPHA:52
Vacterl/Vater Association
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Abn... ORPHA:887
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Platyspondyly, Sco... OMIM:608940
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Short stature, Kyphoscoliosis, Pectus exc... OMIM:602535
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology, Short stature ORPHA:1836
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Pectus excavatum, Kyphosis, Shoulder dislocati... ORPHA:536532
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... OMIM:223800
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis OMIM:601455
De Barsy Syndrome
Short stature, Kyphoscoliosis, Pectus excavatum, Postnatal growth retardation, Umbilical hernia, ... ORPHA:2962
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short-trunk short stature, Platy... OMIM:619698
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Scoliosis, U... OMIM:301040
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave... OMIM:259770
Pontocerebellar Hypoplasia, Type 10
Growth delay, Syringomyelia, Kyphoscoliosis, Short neck OMIM:615803
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Thin rib... ORPHA:958
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Pectus carinatum ORPHA:397709
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Disproportion... OMIM:271510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short stature, Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Na... OMIM:618395
Loeys-Dietz Syndrome 5
Scapular winging, Short stature, Kyphoscoliosis, Pectus excavatum, Cervical spine instability, Pe... OMIM:615582
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Disproportionate short-trunk short sta... OMIM:200610
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Disproportionate short-limb short stature, Pectus carinatum ORPHA:93351
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis OMIM:620075
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature OMIM:601076
Thrombocytopenia-Absent Radius Syndrome
Short stature, Spina bifida, Lateral clavicle hook, Abnormal shoulder morphology, Fused cervical ... OMIM:274000
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Renpenning Syndrome
Severe short stature, Pectus excavatum, Abnormal rib morphology, Growth delay, Sprengel anomaly ORPHA:3242
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Abnormal rib morphology, Short stature ORPHA:2145
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Kyphoscoliosis, Abnormal sternum morphology, Scoliosis, Abnormality of the cer... ORPHA:2953
Kniest Dysplasia
Rhizomelia, Short neck, Pectus excavatum, Disproportionate short-trunk short stature, Coronal cle... OMIM:156550
Cleidocranial Dysplasia
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal... ORPHA:1452
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal ri... ORPHA:2911
You-Hoover-Fong Syndrome
Pectus excavatum, Kyphoscoliosis OMIM:616954
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Short stature OMIM:122860
Warburg Micro Syndrome 3
Postnatal growth retardation, Kyphoscoliosis OMIM:614222
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Proportionate short stature, Postnatal growth retardation, Abnormality of the ... ORPHA:79345
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci... ORPHA:254534
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Severe short stature, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Spina... OMIM:271640
Gm1-Gangliosidosis, Type I
Thickened ribs, Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scolios... OMIM:230500
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short stature, Kyphoscoliosis OMIM:618005
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Short stature, Kyphoscoliosis, Pectus excavatum, Atlantoaxial instabil... ORPHA:536545
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Robinow Syndrome, Autosomal Dominant 2
Umbilical hernia, Sacral dimple, Short stature, Kyphoscoliosis OMIM:616331
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Short neck OMIM:272430
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Disproportionate short-limb short stat... OMIM:166210
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis, Intrauterine growth retardation ORPHA:3378
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphoscoliosis, Pectus carinatum ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Spinal rigidity, Kyphoscoliosis, Pectus carinatum ORPHA:98914
Greenberg Dysplasia
Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b... OMIM:215140
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Scoliosis, Spina bifida OMIM:619480
Pseudoleprechaunism Syndrome, Patterson Type
Intrauterine growth retardation, Abnormal odontoid process morphology, Kyphoscoliosis ORPHA:2976
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Rhizomelia, Short neck, Thin clavicle... OMIM:228520
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Short neck, Abnormal thorax morphology, Meningocele, Hydrocephalus, ... ORPHA:567
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Short stature, Kyphoscoliosis OMIM:163200
Primary Dystonia, Dyt4 Type
Kyphoscoliosis ORPHA:98805
Hajdu-Cheney Syndrome
Short stature, Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Biconcave... OMIM:102500
Melnick-Needles Syndrome
Short stature, Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, A... ORPHA:2484
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Barrel-shaped chest, Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck,... OMIM:143095
Osteogenesis Imperfecta, Type Iii
Kyphosis, Thin ribs, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bo... OMIM:259420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Beaded ribs, Short neck, Platyspondyly, Short ribs, Intrauterine growth r... OMIM:616897
Dyggve-Melchior-Clausen Disease
Severe short stature, Glenoid fossa hypoplasia, Rhizomelia, Short neck, Horizontal inferior borde... ORPHA:239
Neu-Laxova Syndrome 1
Spina bifida, Short neck, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydra... OMIM:256520
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Short stature, Pectus carinatum ORPHA:3068
Cerebrofaciothoracic Dysplasia
Short stature, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest... ORPHA:1394
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis ORPHA:324410
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum, Kyphosis, Growth dela... OMIM:249420
Autosomal Recessive Spastic Paraplegia Type 9B
Growth delay, Short stature, Kyphoscoliosis ORPHA:447760
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retard... ORPHA:263508
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Short stature, Kyphoscoliosis, Pectus carinatum ORPHA:488642
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Hydrocephalus, Short thorax, Anencephaly, Thoracic dysplasia, N... OMIM:269860
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Abnormal cervical curvature, Vertebral fusion, Thin ribs OMIM:312150
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Scoliosis ORPHA:115
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Growth delay, Scoliosis, Umbilical hernia, Intrauteri... ORPHA:84
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Thin clavicles, Thin ribs, Growth delay, Intrauterine growth retard... ORPHA:93324
Hypophosphatasia
Abnormal rib morphology, Narrow chest, Short stature ORPHA:436
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Thin clavicles, Thin ribs, Birth length less than 3r... OMIM:244460
Restrictive Dermopathy 1
Kyphoscoliosis, Thin clavicles, Hydropic placenta, Stillbirth, Short umbilical cord, Short clavic... OMIM:275210
Alg3-Cdg
Neural tube defect ORPHA:79321
Melnick-Needles Syndrome
Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum,... OMIM:309350
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short stature, Rhizomelia, Thin ribs, Platyspondyly, ... OMIM:613848
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal cord tumor, Abnormal form of the vertebral bodie... ORPHA:2162
Autosomal Recessive Multiple Pterygium Syndrome
Short stature, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebral segmentation ... ORPHA:2990
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Abnormal thora... ORPHA:798
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Short stature, Rhizomelia, Beaded ribs, Platyspondyly, Narrow chest, Vert... OMIM:616229
Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Short stature, Kyphoscoliosis, Pectus carinatum, Coronal cleft vertebr... ORPHA:536471
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Asymmetry of the thorax ORPHA:457359
Holzgreve Syndrome
Intrauterine growth retardation, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis ORPHA:99750
Robinow Syndrome
Fused thoracic vertebrae, Short stature, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae,... ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Intrauterine growth retardation, Severe short stature, Kyphoscoliosis, Pectus carinatum OMIM:210730
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis ORPHA:466722
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal rib morphology, Narrow chest, Scoliosis,... ORPHA:90652
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Abnormal cervical curvature, Vertebral fusion, Thin ribs OMIM:253290
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Mevalonic Aciduria
Short stature, Kyphoscoliosis OMIM:610377
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Large placenta, Postnatal growth retardation, Prominent sternum, Coat hanger si... ORPHA:254528
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Pectus excavatum, Postnatal growth retardation, Growth delay, Scolio... OMIM:180849
X-Linked Intellectual Disability, Snyder Type
Short stature, Kyphoscoliosis, Pectus excavatum, Kyphosis, Pectus carinatum ORPHA:3063
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Abnormality of th... ORPHA:77301
Incontinentia Pigmenti
Short stature, Hemivertebrae, Supernumerary ribs, Kyphoscoliosis OMIM:308300
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Short neck, Hydrocephalus, Abnormal rib morphology, ... ORPHA:93473
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Hydrocephalus, Missing ribs ORPHA:3301
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Disproportionate short stature, Hypoplastic v... OMIM:224300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Vertebral compression fracture, Short stature, C1-C2 subluxation, Kyphoscoliosis OMIM:259600
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Broad ribs, Platyspondyly, Na... ORPHA:1517
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Broad ribs ORPHA:583
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Thoracolumbar kyphoscoliosis, Short neck ORPHA:231720
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Scoliosis ORPHA:99956
Oculocerebrocutaneous Syndrome
Hydrocephalus, Abnormal rib morphology, Missing ribs ORPHA:1647
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Atlantoaxial instability, Kyphoscoliosis OMIM:614557
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... OMIM:250420
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs OMIM:225400
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Scoliosis, Intercostal muscle weakness ORPHA:2020
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Pectus excavatum, Hydrocephalus, Thin ribs, Pectus carinatum, C1-C2 verteb... OMIM:182212
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short stature, Short ribs, Scoliosis OMIM:252600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Disproportionate short-limb short statur... OMIM:610915
Arthrogryposis And Ectodermal Dysplasia
Short stature, Kyphoscoliosis OMIM:601701
Gracile Bone Dysplasia
Hydrocephalus, Short stature, Thin ribs OMIM:602361
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Trisomy 1Q
Hydrocephalus, Short thorax, Abnormal rib morphology ORPHA:261344
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Intraut... OMIM:620076
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Broad ribs, Narrow chest, Intrauterine growth retardation OMIM:617022
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib, U... OMIM:618188
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thor... OMIM:618019
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Short s... ORPHA:666
Mosaic Trisomy 8
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, ... ORPHA:96061
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Short stature, Kyphoscoliosis, Short neck, Postnatal growth... OMIM:163950
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Short stature, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Hydrocephalus, Scoliosis ORPHA:363700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Bell-shaped thorax, Stillbirth, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short stature, Shoulder flexion contracture, Hyperlordosis, Pectus... ORPHA:800
Congenital Myopathy 13
Kyphoscoliosis, Short stature, Scoliosis OMIM:255995
Wrinkly Skin Syndrome
Short stature, Kyphoscoliosis, Pectus excavatum, Postnatal growth retardation, Umbilical hernia, ... ORPHA:2834
Marfan Syndrome
Kyphoscoliosis, Pectus excavatum, Dural ectasia, Pectus carinatum, Scoliosis, Spondylolisthesis OMIM:154700
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Dispr... OMIM:607778
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Cenani-Lenz Syndrome
Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3258
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vertebral bodies, ... ORPHA:73230
Congenital Myopathy 22B, Severe Fetal
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,... OMIM:620369
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Growth delay, Horizontal ribs OMIM:614857
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Short stature, Thoracolumbar scoliosis, Down-sloping shoulders, Short neck, Kypho... OMIM:265000
Sponastrime Dysplasia
Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspon... ORPHA:93357
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Short stature, Thin ribs OMIM:614833
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Floating-Harbor Syndrome
11 pairs of ribs, Short stature, Kyphoscoliosis, Short neck, Short clavicles, Umbilical hernia OMIM:136140
Osteopathia Striata With Cranial Sclerosis
Short stature, Pectus excavatum, Hydrocephalus, Straight clavicles, Scoliosis, Thoracolumbar kyph... OMIM:300373
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Disproportionate short stature, Abnormal rib morphology, Rhizomelic ... ORPHA:93317
Distal Deletion 12Q
Growth delay, Short stature, Kyphoscoliosis, Short neck ORPHA:96149
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short stature, Short neck, Pectus e... OMIM:213980
Rothmund-Thomson Syndrome, Type 2
Short stature, Kyphoscoliosis OMIM:268400
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Kyphoscoliosis OMIM:618820
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Horizontal ribs OMIM:613091
Radio-Renal Syndrome
Severe short stature, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Proportionate short stature, Rib fusion, Hemivertebrae, Cer... ORPHA:500150
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Craniometadiaphyseal Dysplasia
Broad ribs, Short stature, Scoliosis OMIM:269300
Meier-Gorlin Syndrome 1
Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus car... OMIM:224690
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Broad clavicles, Hemivertebrae, Broad ribs, Intrauterine growth retardation, Spina... OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis, Delayed puberty OMIM:300967
Abetalipoproteinemia
Kyphoscoliosis ORPHA:14
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... OMIM:206900
Occipital Horn Syndrome
Broad clavicles, Pectus excavatum, Kyphosis, Pectus carinatum, Growth delay, Platyspondyly, Narro... OMIM:304150
Floating-Harbor Syndrome
11 pairs of ribs, Short stature, Kyphoscoliosis, Short neck, Shield chest, Growth delay, Short cl... ORPHA:2044
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Proportionate short stature, Spinal canal stenosis, Scoliosi... OMIM:277600
Dextrocardia
Hydrocephalus, Abnormal rib morphology ORPHA:1666
Wiedemann-Rautenstrauch Syndrome
Short stature, Irregular sclerotic endplates, Kyphoscoliosis, Hydrocephalus, Hypoplastic vertebra... ORPHA:3455
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Thin ribs OMIM:618265
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Undulate ribs, Platy... OMIM:211350
Neurofibroma
Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Thoracic hemiverteb... OMIM:268310
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Tethered cord, Kyphosis, Abnormal thorax morpholog... ORPHA:280
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Postnatal grow... OMIM:117650
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Short stature, Abnormal rib morphology, Abnormal lumbar spine morph... ORPHA:249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis ORPHA:85167
Pallister-Hall Syndrome
Short stature, Rib fusion, Hemivertebrae, Holoprosencephaly, Neonatal death, Intrauterine growth ... OMIM:146510
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Delayed pub... ORPHA:50
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short stature, Short neck, Ovoid thoracolumb... OMIM:252940
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Vertebral se... ORPHA:1507
Kbg Syndrome
Vertebral fusion, Short stature, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, T... OMIM:148050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Ellis-Van Creveld Syndrome
Pectus carinatum, Short ribs, Narrow chest, Disproportionate short-limb short stature, Neonatal s... OMIM:225500
Smith-Lemli-Opitz Syndrome
Short stature, Rhizomelia, Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the ve... ORPHA:818
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Thin ribs OMIM:300219
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Hydrocephalus, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:581
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Hyperlordosis ORPHA:653
Williams-Beuren Syndrome
Short stature, Down-sloping shoulders, Kyphoscoliosis, Pectus excavatum, Umbilical hernia, Intrau... OMIM:194050
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Short stature, Proportionate short stature, Spinal canal stenosis, Broad ri... OMIM:608328
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... OMIM:276820
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Fetal Akinesia Deformation Sequence 1
Short neck, Hydrocephalus, Thin ribs, Stillbirth, Short umbilical cord, Small placenta, Intrauter... OMIM:208150
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Vertebral arch anomaly ORPHA:85184
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles OMIM:269500
Myhre Syndrome
Intrauterine growth retardation, Platyspondyly, Severe short stature, Abnormal rib morphology ORPHA:2588
Nestor-Guillermo Progeria Syndrome
Short stature, Thin ribs, Growth delay, Rib osteolysis, Progressive clavicular acroosteolysis, Sc... OMIM:614008
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Hydrocephalus, Abnormal rib morphology, Stillbirth, Narrow chest, Scoliosis... ORPHA:95699
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Plat... ORPHA:309282
Xylt1-Cdg
Growth delay, Broad ribs, Short stature, Short clavicles ORPHA:370930
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Tethered cord, Short stature, Ky... OMIM:194190
Frontometaphyseal Dysplasia 1
Scapular winging, Fused cervical vertebrae, Coat hanger sign of ribs, Scoliosis, Cervical C2/C3 v... OMIM:305620
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont... ORPHA:3003
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Cutis Laxa, Autosomal Recessive, Type Iic
Short stature, Kyphoscoliosis OMIM:617402
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Thin ribs ORPHA:171430
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis OMIM:617403
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Lumbar hemivertebrae, Thin ribs ORPHA:2463
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior border of scapula, Dis... OMIM:250220
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus exca... OMIM:600920
Osteopetrosis, Autosomal Recessive 7
Growth delay, Multiple rib fractures, Hydrocephalus OMIM:612301
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Short stature, Rhizomelia, Pectus excavatum, Narrow chest, Scoliosis, Ver... OMIM:610682
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
X-Linked Hypophosphatemia
Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Disproportion... ORPHA:89936
Charge Syndrome
Short stature, Aqueductal stenosis, Postnatal growth retardation, Abnormal rib morphology, Hemive... ORPHA:138
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Kyphoscoliosis, Delayed puberty ORPHA:466791
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Neonatal death, Horizon... OMIM:617925
Ulbright-Hodes Syndrome
Short neck, Postnatal growth retardation, Abnormal rib morphology, Ovoid thoracolumbar vertebrae,... ORPHA:3404
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs OMIM:208500
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Pectus excavatum, Growth delay, Nar... OMIM:309800
Zttk Syndrome
Short stature, Kyphosis, Rib fusion, Hemivertebrae, Growth delay, Cervical ribs, Scoliosis, Intra... OMIM:617140
Stuve-Wiedemann Syndrome 1
Short stature, Ovoid vertebral bodies, Short neck, Thin ribs, Scoliosis OMIM:601559
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus, Abnormal rib morphology, Narrow chest ORPHA:667
Premature Aging Syndrome, Penttinen Type
Cervical ribs, Scoliosis, Thin ribs OMIM:601812
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Growth delay, Neural tube defect, Scoliosis ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Growth delay, Neural tube defect, Scoliosis ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Growth delay, Neural tube defect, Scoliosis ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Growth delay, Neural tube defect, Scoliosis ORPHA:93924
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Broad ribs, Hyperlordosis OMIM:301066
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Large placenta, Thin clavicles, Thi... ORPHA:1662
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Oculocerebrorenal Syndrome Of Lowe
Short stature, Kyphosis, Abnormal rib morphology, Platyspondyly, Scoliosis, Delayed puberty, Umbi... ORPHA:534
Ear-Patella-Short Stature Syndrome
Severe short stature, Aplastic clavicle, Abnormal rib morphology, Growth delay, Intrauterine grow... ORPHA:2554
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Femoral-Facial Syndrome
Short stature, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Scoliosis, Sprengel anom... OMIM:134780
Myhre Syndrome
Vertebral fusion, Short stature, Short neck, Birth length less than 3rd percentile, Enlarged vert... OMIM:139210
Baller-Gerold Syndrome
Severe short stature, Short stature, Hydrocephalus, Rib fusion, Severe intrauterine growth retard... OMIM:218600
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short stature, Kyphoscoliosis, Short neck OMIM:309580
Ring Chromosome 7 Syndrome
Holoprosencephaly, Lumbar kyphoscoliosis, Severe intrauterine growth retardation, Short stature ORPHA:1449
Pallister-Killian Syndrome
11 pairs of ribs, Sacral dimple, Tethered cord, Rhizomelia, Kyphoscoliosis, Short neck, Mesomelic... OMIM:601803
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Short stature, Spinal cord compression, Spinal canal stenosis, Growth delay, Umbi... ORPHA:217085
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Short stature, Spinal cord compression, Spinal canal stenosis, Growth delay, Umbi... ORPHA:217093
Eiken Syndrome
Broad ribs, Short stature OMIM:600002
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Short neck, Postnatal growth retardation, Hypoplasia of ... OMIM:269150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Cranioectodermal Dysplasia 2
Short stature, Rhizomelia, Short neck, Pectus excavatum, Short ribs, Narrow chest, Horizontal ribs OMIM:613610
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Postnatal growth retardation, Cleft vertebral arch, Thin ribs, Fused cervical ver... ORPHA:83617
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology, Short stature ORPHA:2907
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly, Short stature OMIM:619727
Coccidioidomycosis
Broad ribs, Hydrocephalus, Abnormality of the vertebral column ORPHA:228123
Fryns Syndrome
Short neck, Thin ribs, Stillbirth, Broad ribs, Thoracic hypoplasia OMIM:229850
1P36 Deletion Syndrome
11 pairs of ribs, Short stature, Kyphosis, Rib fusion, Spinal canal stenosis, Scoliosis, Bifid ribs ORPHA:1606
Wiedemann-Rautenstrauch Syndrome
Short stature, Short neck, Hydrocephalus, Thin ribs, Narrow chest, Scoliosis, Intrauterine growth... OMIM:264090
Charge Syndrome
Down-sloping shoulders, Postnatal growth retardation, Abnormal rib morphology, Hemivertebrae, Hol... OMIM:214800
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, Supernumerary ribs OMIM:619127
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Undulate ribs, Short clavicles, Short neck OMIM:609945
Cardiospondylocarpofacial Syndrome
Short stature, Rib fusion, Fused cervical vertebrae, Herniation of intervertebral nuclei, Scoliosis OMIM:157800
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Hydrocephalus, Rib fusion, Growth delay, Bifid ribs, Scoliosis OMIM:607872
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs, Short stature ORPHA:2785
Pallister-Hall Syndrome
Short stature, Rib fusion, Hemivertebrae, Holoprosencephaly, Umbilical hernia, Intrauterine growt... ORPHA:672
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Short stature, Delayed puberty ORPHA:857
Pmm2-Cdg
Platyspondyly, Kyphoscoliosis ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itpk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itpk1.

No publications found that use IMPC mice or data for Itpk1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Itpk1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Itpk1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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