Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wingless-type MMTV integration site family, member 3A
Synonyms:
Wnt-3a

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Wnt3a mutations

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

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

The table below shows human diseases associated to Wnt3a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193

The table below shows human diseases predicted to be associated to Wnt3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia ORPHA:3169
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Brachyda... ORPHA:40
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Hemiplegia/hemiparesis, Cleft palate... ORPHA:2345
Caudal Duplication
Vertebral segmentation defect, Myelomeningocele, Abnormal penis morphology, Bifid sacrum, Uretera... ORPHA:1756
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Pes cavus, Scoliosis OMIM:617087
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology ORPHA:93304
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Pes cavus, Scoliosis OMIM:611225
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spinal dysraphism, Spina bifida ORPHA:3176
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Coxa valga OMIM:616583
Renal Agenesis, Bilateral
Abnormal sacrum morphology, Sirenomelia ORPHA:1848
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:64754
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Pes planus, Proximal lower limb amyotrop... OMIM:600175
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Winchester Syndrome
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Kyphoscoliosis OMIM:271200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal ossification invo... ORPHA:2114
Ichthyosis--Cheek--Eyebrow Syndrome
Pes planus, Kyphoscoliosis OMIM:146720
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... OMIM:112350
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Long foot OMIM:300844
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae OMIM:230650
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones OMIM:618392
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Pes cavus, Scoliosis ORPHA:101075
Heart Defects-Limb Shortening Syndrome
Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Abnormal m... ORPHA:1354
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Masa Syndrome
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis OMIM:303350
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Scoliosis OMIM:616471
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Platyspondyly, Scoliosis, Abnormal ulnar metaphysi... ORPHA:85198
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Femoral bo... ORPHA:3344
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Pes cavus, Scoliosis ORPHA:101078
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple ... ORPHA:66637
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Congenital hip dislocation, Scoliosis, Overlapping fingers, Abnorm... OMIM:618291
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femora... OMIM:113500
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Bilateral cleft lip and palate, Spina bifida, Cleft palate ORPHA:1104
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis, Hyperlordosis, ... OMIM:615290
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Pes cavus, Scoliosis OMIM:610743
Variegate Porphyria
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Increased fecal pr... OMIM:176200
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Hyperextensibility of the finger joints, Platyspondyly, Tapered finger, Thoracolumbar s... OMIM:313420
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis OMIM:309620
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Large hands, Scoliosis, Tapered finger ORPHA:276630
Bruck Syndrome 1
Kyphosis, Coxa vara, Talipes equinovarus, Platyspondyly, Scoliosis, Protrusio acetabuli, Knee fle... OMIM:259450
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation OMIM:616756
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck, Camptodactyly, Rocker bottom foot OMIM:618393
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... OMIM:301900
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Dysphagia, Syringomyelia, Spina bifida, Ce... OMIM:207950
Doors Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Abnormality of toe, Abnormality o... ORPHA:79500
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Tethered cord, Bifid uvula, Spinal dysraphism, Renal hypoplasia, Absence of ... OMIM:617660
Metatropic Dysplasia
Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Scoliosis, Abnormal form of th... ORPHA:2635
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Abnormal form of the vertebral bodies, Spina bifida, Intrauterine growth retardation... ORPHA:1327
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Proteus Syndrome
Kyphosis, Clinodactyly of the 5th finger, Abnormality of finger, Scoliosis, Abnormal form of the ... ORPHA:744
Metatropic Dysplasia
Platyspondyly, Hyperplasia of the femoral trochanters, Anisospondyly, Flared femoral metaphysis, ... OMIM:156530
Cloacal Exstrophy
Myelomeningocele, Anal atresia, Hypoplasia of penis, Ureterocele, Intestinal malrotation, Hemiver... ORPHA:93929
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Hemihypotrophy of lower limb OMIM:108450
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Scoliosis ORPHA:3454
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hydrocephalus, Congenital megaureter, Tracheoesophageal fistula, U... ORPHA:2437
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Metaphyseal irregularity, Multicentric femoral head ossifi... OMIM:607326
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Kyphosis, Scoliosis ORPHA:1548
Sacral Defect With Anterior Meningocele
Anterior sacral meningocele, Myelomeningocele, Hydrocephalus, Hemisacrum, Back pain, Tethered cor... OMIM:600145
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Short neck, Scoliosis, Neonatal death, R... OMIM:611890
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Meningocele, Diastomatomyelia, Missing ribs, Duodenal stenosis ORPHA:1759
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis ORPHA:1858
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Cleft palate, Hypospadias, Abnormality of th... ORPHA:2311
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Thoracolumbar scoliosis, Hydronephrosis, U... OMIM:183802
Wildervanck Syndrome
Fused cervical vertebrae, Short neck, Meningocele ORPHA:3456
Pelvis-Shoulder Dysplasia
Hydrocephalus, Lumbar hyperlordosis, Cleft palate, Abnormal form of the vertebral bodies, Hydrane... ORPHA:2839
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Paralysis, Respiratory paralysis OMIM:612740
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Holoprosencephaly, Anencephaly, ... ORPHA:63259
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Posterior rib gap, Cleft palate, Glossoptosis, Multicystic kidney dys... ORPHA:1393
Fountain Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida ORPHA:3219
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... ORPHA:93314
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Pes cavus, Scoliosis ORPHA:99014
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Hemivertebrae, Tracheoesophageal fistula, Esoph... ORPHA:3412
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Irregular femoral epiphysis OMIM:255710
Split Cord Malformation
Paraparesis, Hydrocephalus, Tethered cord, Hemivertebrae, Horseshoe kidney, Lipomyelomeningocele,... ORPHA:573278
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Spinal rigidity, Increased laxity of fingers, Adducted thumb, Short nec... ORPHA:75840
Waardenburg Syndrome Type 1
Cleft palate, Scoliosis, Meningocele, Spina bifida, Aganglionic megacolon ORPHA:894
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Cleft palate, Micropenis, Ureteral duplication, Spi... ORPHA:1926
Posterior Meningocele
Occipital meningocele, Hypertonia, Hydrocephalus, Tethered cord, Upper limb spasticity, Hydromyel... ORPHA:268810
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Ectopic anus, Hypospadias, Abnormality of the ureter, Pl... ORPHA:261318
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Metaphyseal cupping of proximal phalanges, Metaphyseal irregularit... ORPHA:174
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Cdkl5-Deficiency Disorder
Kyphosis, Hallux valgus, Scoliosis, Broad proximal phalanges of the hand ORPHA:505652
Ruvalcaba Syndrome
Kyphosis, Small hand, Scoliosis, Micromelia, Short phalanx of finger, Short foot, Short palm, Sho... OMIM:180870
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Short neck, Abnormality of the humerus, Abnormal form o... ORPHA:3098
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Adducted thumb, Arachnodactyly, Scoliosis, Umbilical hernia ORPHA:2181
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Ankle clonus, Scoliosis, Short foot OMIM:617435
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida, Abnormal rib morphology ORPHA:1120
Sandhoff Disease
Kyphosis ORPHA:796
Isolated Hemihyperplasia
Myelomeningocele, Scoliosis ORPHA:2128
Amish Lethal Microcephaly
Organic aciduria, Limb hypertonia, Spina bifida, Cleft soft palate ORPHA:99742
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis, Short lower limbs OMIM:259440
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Areflexia of lower limbs, Pes cavus, Scoliosis, Split hand OMIM:618124
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis OMIM:248760
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, Absent distal phalanx of the 2nd toe, Apla... OMIM:618658
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Camptodactyly of 2nd-5th fingers,... OMIM:609128
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Syndactyly, Radial deviation of finger, Clinodactyly, Hand polydactyly OMIM:300337
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Short neck, Cervical spina bifida OMIM:600122
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... OMIM:251450
Bruck Syndrome
Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Bowing of the long bones ORPHA:2771
Mucolipidosis Iii Gamma
Kyphosis, Flat capital femoral epiphysis, Short neck, Scoliosis, Hyperlordosis, Genu valgum OMIM:252605
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184252
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Shashi-Pena Syndrome
Kyphosis, Scoliosis OMIM:617190
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Small epiphyses of the phalanges of the hand, Flared femor... OMIM:177170
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Postaxial polydactyly, Broad distal phalanx of finger, Scoliosis, Hyperlordosis, Sandal... OMIM:615761
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Progressive Pseudorheumatoid Dysplasia
Coxa vara, Kyphoscoliosis, Enlarged metacarpophalangeal joints, Enlargement of the proximal femor... OMIM:208230
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Neonatal death OMIM:618237
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Non-Syndromic Anorectal Malformation
Myelomeningocele, Anal atresia, Ectopic anus, Hemisacrum, Tethered cord, Rectal fistula, Hemivert... ORPHA:557
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Bilateral talipes equinovarus, Adducted thumb, Sco... OMIM:618484
Mosaic Trisomy 9
High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Hemivertebrae, Short neck... ORPHA:99776
Basal Cell Nevus Syndrome
Bifid ribs, Kyphoscoliosis, Hydrocephalus, Cleft palate, Short ribs, Hemivertebrae, Vertebral fus... OMIM:109400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Short neck, Scoliosis, Clinodactyly ORPHA:178148
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis, Congenital bilateral hip dislocation OMIM:130060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... OMIM:606612
Neu-Laxova Syndrome 2
High palate, Cleft palate, Short neck, Scoliosis, Spina bifida, Intrauterine growth retardation OMIM:616038
Patterson Pseudoleprechaunism Syndrome
Kyphoscoliosis, Palmoplantar cutis laxa, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, I... OMIM:169170
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Anal atresia, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemiv... OMIM:271520
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Horner Syndrome, Congenital
Paralysis OMIM:143000
Becker Nevus Syndrome
Kyphosis, Scoliosis, Micromelia, Abnormality of tibia morphology, Spina bifida occulta, Lower lim... ORPHA:64755
Ck Syndrome
Kyphosis, Scoliosis, Abnormal digit morphology, Hyperlordosis OMIM:300831
Nail-Patella Syndrome
Lumbar hyperlordosis, Back pain, Nephrotic syndrome, Cleft palate, Scoliosis, Hematuria, Proteinu... OMIM:161200
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Interverteb... ORPHA:93284
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Scoliosis, Congenital bilateral hi... ORPHA:536516
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recurvatum, Camptodac... ORPHA:137834
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Myofibrillar Myopathy 10
Kyphosis, Ankle flexion contracture, Sandal gap, Knee flexion contracture OMIM:619040
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Arachnodactyly, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Irregular vertebral endplates, Scoliosis, Caudal interpedicular narrowing, Spinal dysraphism, Pos... OMIM:603546
Diastrophic Dysplasia
Kyphosis, Camptodactyly of finger, Micromelia, Scoliosis, Abnormal form of the vertebral bodies, ... ORPHA:628
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... ORPHA:2916
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Baralle-Macken Syndrome
Kyphosis, Pes planus, Tapered finger OMIM:619255
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Camptodactyly of toe, Pes cavus, Congenital hip dislocation, Scoliosis, Hallux valgus, ... OMIM:300280
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Coxa vara, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... OMIM:183900
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Widow'S Peak Syndrome
Kyphosis, Recurrent patellar dislocation OMIM:314570
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis, Long foot OMIM:300676
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Mucopolysaccharidosis, Type Iva
Kyphosis, Pointed proximal second through fifth metacarpals, Metaphyseal widening, Anterior beaki... OMIM:253000
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Kyphosis, Kyphoscoliosis, Metaphyseal irregularity, Flat capital femoral epiphysis, Slender finge... ORPHA:93360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Talipes equinovarus, Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis,... OMIM:617821
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Supernumerary ribs, Spina bifida, Myelomeningocele OMIM:193500
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli, Vertebral ... OMIM:610968
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Short ... ORPHA:94068
Clark-Baraitser syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Short palm OMIM:300602
Myopathy, Centronuclear, 2
Kyphosis, Talipes equinovarus, Pes cavus, Scoliosis, Hyperlordosis OMIM:255200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis ORPHA:2522
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Peroneal muscle weakness, Talipes equinovarus, Small hand, Scoliosis, Hyperlordosis, Cl... OMIM:181405
Mucopolysaccharidosis, Type Ivb
Kyphosis, Pointed proximal second through fifth metacarpals, Metaphyseal widening, Platyspondyly,... OMIM:253010
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Hepatoblastoma, Cleft palate, Hemiver... OMIM:304050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Calf muscle hypertrophy OMIM:618138
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Short neck, Punctate vertebral calcifications, Int... ORPHA:1914
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Pes cavus, Ankle clonus, Scoliosis OMIM:614409
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Progressive cerebellar ataxia, Myelopathy, Scoliosis, Babinski s... ORPHA:268882
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Brachydactyly, Hyperlordosis, Broad foot ORPHA:3085
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Platyspondyl... OMIM:609162
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:2617
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Umbilical hernia OMIM:615834
Atkin-Flaitz Syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Short palm OMIM:300431
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... OMIM:607155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Ankle clonus, Pes cavus, Scoliosis, Absent Achilles reflex OMIM:609541
Sillence Syndrome
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... ORPHA:3168
Vater/Vacterl Association
Intrauterine growth retardation, Anal atresia, Tethered cord, Hypospadias, Occipital encephalocel... OMIM:192350
Mend Syndrome
Kyphosis, Overlapping toe, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers OMIM:300960
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis, Joint contracture of the 5th finger, Abnormal foot morphology, Umbilical hernia ORPHA:352490
Trisomy 18
Hypertonia, Anal atresia, Narrow palate, Cleft palate, Holoprosencephaly, Esophageal atresia, Ane... ORPHA:3380
Urban-Rogers-Meyer Syndrome
Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Short neck, Brachydactyly, Fle... ORPHA:3409
Achondroplasia
Spinal canal stenosis, Kyphosis, Bowing of the legs, Lumbar hyperlordosis, Hip joint hypermobilit... ORPHA:15
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Renal hypoplasia, Scoliosis, Tethered cord OMIM:612918
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Ence... ORPHA:1908
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Micropenis, Hypospadias, Bladder exstrophy, Spina b... ORPHA:83628
4Q21 Microdeletion Syndrome
Kyphosis, Small hand, Short neck, Scoliosis, Micromelia, Short foot, Short palm, Toe syndactyly ORPHA:238750
Jacobsen Syndrome
Ectopic anus, Duodenal atresia, Intestinal malrotation, Short neck, Scoliosis, Abnormal form of t... ORPHA:2308
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Tho... OMIM:618019
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Sialidosis Type 2
Kyphosis, Pedal edema, Umbilical hernia ORPHA:87876
Triploidy
Hydrocephalus, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Macroglossia, Hypospadias, I... ORPHA:3376
Ruvalcaba Syndrome
Kyphosis, Clinodactyly of the 5th finger, Small hand, Scoliosis, Micromelia, Synostosis of carpal... ORPHA:3121
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Cleft palate, Short umbilical cord, Abnormality of the vertebral... ORPHA:2369
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Kyphosis, Scoliosis, Micromelia ORPHA:79107
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Renal cyst, Meningocele, Encephalocele, Intrau... OMIM:603194
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Thoracic scoliosis, Hypospadias, Short neck, Cervical hemivertebrae, Fused cerv... ORPHA:508498
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Genu valgum, Short neck, Spina bifida occulta ORPHA:2983
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Respiratory paralysis, Hepatocellular carcinoma, Elevated urinary delta... OMIM:176000
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Structural foot deformity, Hip dislocation, Scoliosis ORPHA:464282
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity OMIM:615084
Focal Dermal Hypoplasia
Duodenal atresia, Gastroesophageal reflux, Short ribs, Multicystic kidney dysplasia, Scoliosis, H... ORPHA:2092
Crisponi Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis ORPHA:1545
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Micromelia, Brachydactyly, Abnormal metaphysis morphology, Encephalocele ORPHA:93274
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly, Mesomelia, Rhizomelia OMIM:616482
Lateral Meningocele Syndrome
High palate, Kyphosis, High, narrow palate, Short neck, Scoliosis, Abnormal form of the vertebral... ORPHA:2789
Neu-Laxova Syndrome
Cleft palate, Opisthotonus, Scoliosis, Bifid uvula, Spina bifida, Intrauterine growth retardation... ORPHA:2671
Cartilage-Hair Hypoplasia
Malabsorption, Abnormally ossified vertebrae, Biconvex vertebral bodies, Short neck, Scoliosis, A... ORPHA:175
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Micromelia, Brachydactyly, Abnormal metaphysis morphology, Abnormal sacr... ORPHA:2655
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Genu valgum... ORPHA:582
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Biconcave vertebral bodies, Scoliosis, Protrusio acetabuli OMIM:259420
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Clubbing, Encephalocele, Thoracic platysp... OMIM:108720
Holt-Oram Syndrome
Kyphosis, Absent thumb, Abnormality of the humerus, Scoliosis, Radioulnar synostosis, Aplasia/Hyp... ORPHA:392
Progressive Non-Infectious Anterior Vertebral Fusion
Kyphosis, Spinal rigidity, Proximal radio-ulnar synostosis, Hemivertebrae, Abnormality of the ver... ORPHA:2062
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Ataxia, Clumsiness, Ankle clonus, Knee clonus, Scoliosis, Tongue atrophy, Dysphagia, To... OMIM:211530
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Arachnodactyly, Platyspondyly, Scoliosi... OMIM:108300
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Lateral Meningocele Syndrome
High palate, Kyphosis, Short neck, Biconcave vertebral bodies, Scoliosis, Dural ectasia, Umbilica... OMIM:130720
Mucopolysaccharidosis, Type Vii
Kyphosis, Proximal tapering of metacarpals, Talipes equinovarus, Anterior beaking of lumbar verte... OMIM:253220
Schaaf-Yang Syndrome
Kyphosis, Small hand, Scoliosis, Brachydactyly, Tapered finger, Camptodactyly, Clinodactyly, Shor... OMIM:615547
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Short neck, Scoliosis, Synostosis of carpal bones ORPHA:3191
Marfanoid Habitus With Situs Inversus
Kyphosis, Genu recurvatum, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
Hallermann-Streiff Syndrome
High palate, Narrow palate, High, narrow palate, Thin ribs, Scoliosis, Hyperlordosis, Choreoathet... OMIM:234100
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Short neck, Scoliosis, Brachydactyly, Sacral dimple ORPHA:236
Pelger-Huet Anomaly
Kyphosis, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia,... OMIM:169400
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Foodborne Botulism
Cerebral palsy, Xerostomia, Urinary retention, Diaphragmatic paralysis, Paralysis, Dysphagia ORPHA:228371
Subependymal Nodular Heterotopia
Myelomeningocele, Limb myoclonus, Meningocele, Nasofrontal encephalocele, Occipital encephalocele ORPHA:101030
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Kyphoscoliosis, Thoracic scoliosis, Hydrocephalu... OMIM:114290
Ulnar Hemimelia
Spinal dysraphism, Butterfly vertebrae, Scoliosis ORPHA:93320
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth, straightenin... OMIM:166220
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis, Pes planus, Short metatarsal, Coxa valga, Short metacarpal OMIM:248800
Alpha-Mannosidosis
Kyphosis, Short neck, Scoliosis, Bowing of the long bones ORPHA:61
Cono-Spondylar Dysplasia
Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short neck, Scoliosis, Short humeru... ORPHA:420794
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Small hand, Pes cavus, Brachydactyly, Pes planus, Sandal gap, Short foot OMIM:300354
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Synostosis of... ORPHA:1005
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Abnormal cervical myelogram OMIM:109500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276241
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Scoliosis, Cong... ORPHA:2616
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Hemivertebrae, Short neck, S... ORPHA:958
Toxin-Mediated Infectious Botulism
Dysphagia, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Thanatophoric Dysplasia Type 1
Kyphosis, Short femur, Femoral bowing, Platyspondyly, Micromelia, Brachydactyly, Bowing of the lo... ORPHA:1860
Wieacker-Wolff Syndrome
Kyphosis, Talipes equinovarus, Short neck, Scoliosis, Hyperlordosis, Camptodactyly, Proximal plac... OMIM:314580
Holoprosencephaly
Hydrocephalus, Gastroesophageal reflux, Hypoplasia of penis, Intestinal atresia, Holoprosencephal... ORPHA:2162
Oeis Complex
Myelomeningocele, Anal atresia, Hydrocephalus, Vesicovaginal fistula, Tethered cord, Micropenis, ... OMIM:258040
22Q11.2 Deletion Syndrome
Hydrocephalus, Cleft palate, Short neck, Umbilical hernia, Anorectal anomaly, Gastrointestinal he... ORPHA:567
Phaver Syndrome
Myelomeningocele, Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morpho... ORPHA:2876
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Talipes equinovarus, Spinal rigidity, Increased laxity of fingers, Scoliosis, Hip dislo... OMIM:254090
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Genu varum, Hyperlordosis, Genu valgum, Hip dis... ORPHA:171436
Mucopolysaccharidosis Type 6
Kyphosis, Short neck, Genu valgum, Ovoid vertebral bodies, Abnormal metaphysis morphology ORPHA:583
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Supernumerary ribs, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Bowing of the long bones, Abnormal me... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Atypical Rett Syndrome
Small hand, Kyphosis, Scoliosis, Short foot ORPHA:3095
Fanconi Anemia
High palate, Anal atresia, Hydrocephalus, Abnormal preputium morphology, Cleft palate, Hypospadia... ORPHA:84
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Absent Achilles reflex, Scoliosis, Hyperlordosis OMIM:128100
Muscle-Eye-Brain Disease
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Meningocele ORPHA:588
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Talipes equinovarus, Short neck, Scoliosis, Radial deviation of the hand, Rocker bottom... OMIM:301041
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis, Acute kidney i... ORPHA:449285
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Parapleg... ORPHA:1136
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Ureteral duplication, Fused cervical vertebrae, Cervical ribs, Horseshoe kidney, Sy... OMIM:274000
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Palmoplantar keratoderma ORPHA:324737
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Hyporeflexia of lower limbs, Scoliosis, Hyperlordosis, Prox... ORPHA:98855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture, Postaxial polydactyly OMIM:603387
Postaxial Acrofacial Dysostosis
Cleft palate, Micropenis, Supernumerary vertebrae, Pyloric stenosis, Midgut malrotation OMIM:263750
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Abnormality of toe, Small hand, Scoliosis, Brachydactyly, Abnormal th... ORPHA:94065
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Gastroesophageal reflux, Scoliosis, Bifid uvula, Spina bifida OMIM:619480
X-Linked Adrenoleukodystrophy
Paraparesis, Urinary bladder sphincter dysfunction, Clumsiness, Hemiparesis, Progressive spastic ... ORPHA:43
Meckel Syndrome, Type 4
Hydrocephalus, Cleft palate, Anencephaly, Renal cyst, Meningocele, Encephalocele, Intrauterine gr... OMIM:611134
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Metaphyseal widening OMIM:618476
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Overlapping toe, Prominent fingertip pads, Short fourth metatarsal, Scoliosis, Bilatera... OMIM:619557
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Femoral retroversion, Femoral bowing, Platyspondyly, Scol... OMIM:610915
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Gastroesophageal reflux, Myoclonus, Scoliosis, Neurogenic bladder, Spasticity, Dysphagia, Vocal c... ORPHA:500144
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Xerostomia, Spasticity, Paralysis, Motor neuron atrophy ORPHA:803
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Hip dislocation OMIM:608776
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Proximal lower limb a... ORPHA:98863
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Clinodactyly of the 5th finger, Slender finger, Small hand, Scoliosis, Short 5th finger... OMIM:618443
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Pagod Syndrome
Multicystic kidney dysplasia, Abnormal rib morphology, Meningocele, Encephalocele, Spina bifida ORPHA:991
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Kyphosis ORPHA:261222
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Short neck, Scoliosis OMIM:230500
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Tibial bowing, Talipes equinovarus, Femoral bowing,... ORPHA:140
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Hydrocephalus, Spondylolisthesis, Hypospadias, Cervical spinal canal stenosis, Scoliosi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Hydrocephalus, Spondylolisthesis, Hypospadias, Cervical spinal canal stenosis, Scoliosi... ORPHA:363958
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Micromelia, Brachydactyly, Hyperlordosis, Bowing of the long bon... ORPHA:1798
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Ulnar deviation of finger, Umbilical hernia, Rocker bottom foot, Talipes equinovarus,... OMIM:265000
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Kyphosis, Postaxial foot polydactyly OMIM:258850
Exstrophy-Epispadias Complex
Anal atresia, Hydrocephalus, Cystocele, Abnormality of the ureter, Abnormality of the gastrointes... ORPHA:322
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, A... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, A... ORPHA:98853
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendon, Limitation of knee mobilit... OMIM:203500
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Scoliosis, Spina bifida, Renal artery stenosis OMIM:162200
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Inhalational Botulism
Urinary retention, Xerostomia, Paralysis ORPHA:254504
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Clinodactyly of the 5th finger, Small hand, Pes cavus, Short neck, Scoliosis, Camptodac... ORPHA:85293
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
2Q31.1 Microdeletion Syndrome
Vertebral segmentation defect, Kyphosis, Ectrodactyly, Clinodactyly of the 5th finger, Abnormal m... ORPHA:251014
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Abnormality of the spinal cord ORPHA:99947
Weaver Syndrome
Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared femoral meta... OMIM:277590
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
19P13.12 Microdeletion Syndrome
Kyphosis, Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Short neck, Sco... ORPHA:254346
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Severe platyspondyly, Sacral dimple, Increased intervertebral space, Broad phalanges of the hand,... ORPHA:508533
Hurler-Scheie Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Umbilical hernia OMIM:607015
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Rett Syndrome
Kyphosis, Scoliosis, Short foot OMIM:312750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, 2-3 toe syndactyly, Postaxial polydactyly, Broad distal phalanx of finger, Scoliosis, P... ORPHA:404440
Harrod Syndrome
Arachnodactyly, Kyphosis, Scoliosis ORPHA:2115
Andersen-Tawil Syndrome
Renal tubular dysfunction, High palate, Periodic paralysis, Periodic hypokalemic paresis, Scolios... ORPHA:37553
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Pes cavus, Ankle clonus, Scoliosis ORPHA:88644
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... OMIM:143095
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Kyphosis, Brachydactyly, Scoliosis ORPHA:2075
Marden-Walker Syndrome
Kyphosis, Talipes equinovarus, Arachnodactyly, Short neck, Scoliosis, Radioulnar synostosis, Camp... OMIM:248700
Rift Valley Fever
Paraparesis, Melena, Back pain, Hematemesis, Decerebrate rigidity, Hematuria, Hemiparesis, Paralysis ORPHA:319251
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Gastroesophageal reflux, Oculomotor apraxia, Short ribs, Hypospadias, Cervi... ORPHA:397715
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hypertonia, Glossoptosis, Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, 2-3 toe syndactyly, 3-4 finger cutaneous syndactyly, Camptodactyly of finger, Scoliosis... OMIM:619951
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Brachydactyly, Tapered f... OMIM:617061
Trisomy 8Q
Myelomeningocele, High palate, Hypoplasia of penis, Cleft palate, Short neck, Bifid tongue, Displ... ORPHA:1752
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Back pain, Sacroiliac arthritis OMIM:106300
Phocomelia, Schinzel Type
Anal atresia, Hypoplasia of penis, Cleft palate, High, narrow palate, Tracheoesophageal fistula, ... ORPHA:2879
Rubinstein-Taybi Syndrome 1
High palate, Narrow palate, Gastroesophageal reflux, High, narrow palate, Cleft palate, Poor coor... OMIM:180849
3C Syndrome
Kyphosis, Hemivertebrae, Short neck, Scoliosis, Brachydactyly, Hand polydactyly, Finger syndactyly ORPHA:7
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Gm1 Gangliosidosis
Kyphosis, Camptodactyly of finger, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodie... ORPHA:354
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Paralysis ORPHA:83601
Japanese Encephalitis
Hypertonia, Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor ne... ORPHA:79139
Pycnodysostosis
Kyphosis, Spondylolisthesis, Spondylolysis, Small hand, Scoliosis, Brachydactyly, Hyperlordosis, ... ORPHA:763
Tick-Borne Encephalitis
Back pain, Myelitis, Hyperkinetic movements, Tremor, Speech apraxia, Paralysis, Dysphagia, Incoor... ORPHA:297
Trisomy 13
Postaxial hand polydactyly, Kyphosis, Scoliosis, Ectrodactyly ORPHA:3378
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis, Hand clenching, Talipes equinovarus OMIM:617988
Renal Tubular Acidosis Iii
Nephrolithiasis, Periodic paralysis, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
3Q29 Microdeletion Syndrome
High palate, Gastroesophageal reflux, Hypospadias, Six lumbar vertebrae, Horseshoe kidney ORPHA:65286
Mosaic Trisomy 20
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Scoliosis, Fused cervical vertebr... ORPHA:1724
Coffin-Lowry Syndrome
Short distal phalanx of finger, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Taper... ORPHA:192
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Abnormality of toe, Knee dislocation, Equinus calca... ORPHA:536532
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis, Camptodactyly ORPHA:88628
Poliomyelitis
Paraparesis, Paralytic ileus, Myelitis, Hyperkinetic movements, Paralysis, Dysphagia, Fasciculations ORPHA:2912
Lathosterolosis
High palate, Hypoplasia of penis, Abnormal thoracic spine morphology, Myoclonus, Horseshoe kidney... ORPHA:46059
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Genu varum, Tapered finger, Metatarsus valgus ORPHA:2479
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Pes planus, Scoliosis, Genu recurvatum ORPHA:364028
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Tapered finger, Pes plan... ORPHA:476126
Hurler Syndrome
Kyphosis, Metaphyseal widening, Short neck, Biconcave vertebral bodies, Hypoplasia of the femoral... OMIM:607014
Neu-Laxova Syndrome 1
Cleft palate, Short umbilical cord, Short neck, Hydranencephaly, Small placenta, Spina bifida, In... OMIM:256520
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Hemivertebrae, Scoliosis, Tapered finger, Clinodac... OMIM:301040
Humero-Radial Synostosis
Meningocele ORPHA:3265
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Fibular Hemimelia
Spina bifida ORPHA:93323
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Arachnodactyly, Scoliosis, Hip dislocation, Vertebral fu... ORPHA:96169
Emanuel Syndrome
Kyphosis, Congenital hip dislocation, Scoliosis OMIM:609029
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Talipes equinovarus, Arachnodactyly, Camptodactyly of finger, Scoliosis, Tapered finger... ORPHA:2215
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Absent hand, Abnormal morphology of ulna, Hand polydacty... ORPHA:2911
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Myoclonus, Aciduria, 3-Methylglutaconic aciduria, Paralysis, Ethylmalonic aci... OMIM:203700
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Keratoderma Hereditarium Mutilans
Abnormality of the spinal cord ORPHA:494
Microphthalmia, Lenz Type
Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Scoliosis, Hyperlordosis, Comp... ORPHA:568
Neurocutaneous Melanocytosis
Syringomyelia, Hemiparesis, Meningocele ORPHA:2481
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Ataxia, Meningocele ORPHA:2003
Familial Osteodysplasia, Anderson Type
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... ORPHA:2769
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Genu varum, Finger syndactyly ORPHA:1969
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Glioblastoma
Paralysis ORPHA:360
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Cleft palate, Abnormal vertebral segmentation and fusion, Hyposp... ORPHA:90652
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly OMIM:619123
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Genu valgum, Scoliosis, Finger joint hypermobility OMIM:618493
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Periodic paralysis, Periodic hypokalemic paresis, Scoliosis OMIM:170390
Cowden Syndrome 5
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615108
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypertonia, Hydrocephalus, Limb ataxia, Scoliosis, Spastic paraplegia, Esophageal varix, Thoracol... ORPHA:2072
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Pes cavus, Scoliosis, Hyperlordosis, Proximal femoral epiphysiolysis OMIM:162300
Noonan Syndrome 14
Kyphosis, Short neck, Pes planus, Clinodactyly, Pes valgus OMIM:619745
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Short neck, Scoliosis OMIM:618223
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Hepatoblastoma, Macroglossia, Short ribs, Undulate ribs, Hemivertebrae, Abnormali... ORPHA:96334
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Gitelman Syndrome
Ataxia, Polyuria, Hypocalciuria, Nocturia, Paralysis, Renal potassium wasting, Enuresis, Renal ma... OMIM:263800
Camurati-Engelmann Disease
Kyphosis, Abnormality of femur morphology, Cortical thickening of long bone diaphyses, Metaphysea... ORPHA:1328
2P15P16.1 Microdeletion Syndrome
Kyphosis, Toe clinodactyly, Camptodactyly of finger, Scoliosis, Tapered finger, Pes planus, Sanda... ORPHA:261349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Arachnodactyly, Scoliosis, Long foot, Hyperlordosis, Large hands, Pes planus OMIM:617011
Mucopolysaccharidosis, Type Ii
Kyphosis, Pes cavus, Short neck, Umbilical hernia, Split hand OMIM:309900
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Paget Disease Of Bone 5, Juvenile-Onset
Lateral femoral bowing, Kyphosis, Short humerus, Bowing of the long bones OMIM:239000
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Radial deviation of finger, Kyphosis, Clinodactyly OMIM:609944
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Rett Syndrome, Congenital Variant
Kyphosis, Pes planus, Scoliosis, Talipes equinovarus OMIM:613454
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Cowden Syndrome 6
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615109
Schwartz-Jampel Syndrome
Kyphosis, Coxa vara, Talipes equinovarus, Spinal rigidity, Abnormally straight spine, Abnormally ... ORPHA:800
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Overlapping toe, 2-3 toe syndactyly, Adducted thumb, Deviation of the 2nd finger, Pes c... ORPHA:464738
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Gaucher Disease Type 1
Kyphosis, Pedal edema, Vertebral compression fracture ORPHA:77259
Spondyloenchondrodysplasia
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Bowing of the legs, Platyspondyl... ORPHA:1855
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Long fingers, Pes planus, Pes ... OMIM:616914
Cohen Syndrome
Kyphosis, Clinodactyly of the 5th finger, Arachnodactyly, Scoliosis, Tapered finger, Slender toe,... ORPHA:193
Frank-Ter Haar Syndrome
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Bilateral talipes equinovarus, Flared metaphysis, ... OMIM:249420
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Short neck, Scoliosis, Short phalanx of finger, Brachydactyly, Syndactyly, Camptodactyl... OMIM:616894
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Urinary retention, Paralysis, Decrea... ORPHA:79102
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Paramyotonia Congenita Of Von Eulenburg
Dysphagia, Periodic hypokalemic paresis ORPHA:684
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Scoliosis, Hip dislocation... OMIM:610443
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Kyphosis, Short distal phalanx of finger, Clinodactyly of the 5th ... ORPHA:1507
16P13.2 Microdeletion Syndrome
Small hand, Kyphosis, Scoliosis, Short foot ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Brachydactyly, Scoliosis, Absent fourth finger distal interphalangeal crease, Pes planu... OMIM:618050
Distal Tetrasomy 15Q
Arachnodactyly, Kyphosis, Scoliosis, Camptodactyly ORPHA:314588
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Kyphosis, Scoliosis ORPHA:261250
Spinal Arteriovenous Metameric Syndrome
Abnormality of the spinal cord, Spinal arteriovenous malformation ORPHA:53721
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Kyphosis, Short digit, Short neck, Scoliosis, Prominent protruding coccyx, Prominent coccyx, Tali... OMIM:300966
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormality of the spinal cord ORPHA:139396
Alstrom Syndrome
Kyphosis, Pes planus, Scoliosis OMIM:203800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Cowden Syndrome 1
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:158350
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Overlapping fingers, Knee flexion contracture, Bilateral talipes equinovarus OMIM:619708
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Edema of the dorsum of feet, Hyperextensibility of the finger joints, Long fingers, Pos... ORPHA:521426
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck, Polydactyly, Umbilical hernia, Plantar... ORPHA:77301
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Short humerus, Pes planus, Genu valgum, Limited knee extension, Coxa val... OMIM:304150
Hyperkalemic Periodic Paralysis
Hypertonia, Cerebral palsy, Periodic hyperkalemic paralysis, Fasciculations ORPHA:682
Wolf-Hirschhorn Syndrome
Kyphosis, Talipes equinovarus, Split hand, Arachnodactyly, Preaxial hand polydactyly, Abnormality... ORPHA:280
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Kyphosis, Short toe, Partial absence of toe, Short neck, Biconcav... ORPHA:955
Prader-Willi Syndrome
Kyphosis, Small hand, Scoliosis, Syndactyly, Genu valgum, Acromicria, Clinodactyly, Short foot, R... OMIM:176270
Solitary Bone Cyst
Abnormality of the spinal cord