Registered for phenotyping at IMPC

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

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
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Myelomeningocele, Abnormal sacrum ... ORPHA:1756
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormal rib morpho... ORPHA:2345
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... OMIM:609223
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Pes cavus, Scoliosis OMIM:611225
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida ORPHA:64754
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Renal Agenesis, Bilateral
Abnormal sacrum morphology, Sirenomelia ORPHA:1848
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Talipes equinovar... OMIM:600175
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Vertebral wedging, Platyspondyly, Internal tibial torsion, Beaking of... OMIM:616583
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Pes cavus, Talipes equinovarus, Scoliosis OMIM:617087
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... OMIM:271630
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Kyphoscoliosis OMIM:271200
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis ORPHA:640
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Ichthyosis--Cheek--Eyebrow Syndrome
Pes planus, Kyphoscoliosis OMIM:146720
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum, Fibular bowing, Scol... OMIM:112350
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Intellectual Developmental Disorder, X-Linked 19
Long foot, Scoliosis, Kyphoscoliosis OMIM:300844
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Pes cavus, Scoliosis ORPHA:101075
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Scoliosis OMIM:616471
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Anophthalmia Plus Syndrome
Cleft palate, Vertebral segmentation defect, Spina bifida, Bilateral cleft lip and palate ORPHA:1104
Masa Syndrome
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb OMIM:303350
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Pes cavus, Scoliosis ORPHA:101078
Dysspondyloenchondromatosis
Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Vertebral segmenta... ORPHA:85198
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Mye... OMIM:182940
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Decreased pate... OMIM:615290
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,... OMIM:230650
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Syringo... OMIM:207950
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Ectopic anus, Anencephaly, Spina bifida ORPHA:2476
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Vertebral wedging, Cox... OMIM:259450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Renal hypoplasia, Spinal dysra... OMIM:617660
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies, High palate, Intrauterine gro... ORPHA:1327
Variegate Porphyria
Paralysis, Porphyrinuria, Increased urinary porphobilinogen, Increased fecal protoporphyrin conce... OMIM:176200
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Neurogenic bladder, Absence of the sacrum, Hemisacrum, Tethered cord, My... OMIM:600145
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula... ORPHA:2437
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... ORPHA:93929
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis, Hyperlordosis OMIM:614198
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Large hands, Scoliosis, Tapered finger ORPHA:276630
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis OMIM:616756
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... OMIM:301900
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Neonatal death OMIM:618393
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Equinovarus deformity, Abnormal toe morpholog... ORPHA:79500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Kyphosis, Scoliosis ORPHA:3454
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t... ORPHA:573278
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent prot... ORPHA:2839
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Anisospondyly, Caudal appendage, Hypoplasia ... OMIM:156530
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... OMIM:618469
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Lower limb asymmetry, Metatarsus valgus, Kyphosis... ORPHA:744
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis OMIM:309620
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia of the capital femor... OMIM:313400
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Meningocele, Cleft palate, Scoliosis ORPHA:894
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimal... ORPHA:66637
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anencephaly, Hydro... ORPHA:63259
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Metaphyseal dysplasia, Kyphos... OMIM:613330
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior ri... ORPHA:1393
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis ORPHA:1548
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid OMIM:612740
Diabetic Embryopathy
Ureteral duplication, Abnormal sacrum morphology, Hydrocephalus, Cleft palate, Spinal dysraphism,... ORPHA:1926
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs... OMIM:618658
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hemi... ORPHA:3412
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Kyphosis, Hand clenching, Areflexia of lower limbs, Talipes equin... OMIM:611890
Trisomy 20P
Incoordination, Hypospadias, Spina bifida, Short neck, Kyphosis, Abnormality of the ureter, Abnor... ORPHA:261318
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger ORPHA:1858
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology, Spina bifida ORPHA:1120
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif... OMIM:184400
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
Cdkl5-Deficiency Disorder
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis ORPHA:505652
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... ORPHA:93314
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Increased laxity of fingers, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Kn... ORPHA:75840
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum OMIM:255710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Pes cavus, Scoliosis ORPHA:99014
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... ORPHA:3098
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Scoliosis, Umbilical hernia, Adducted thumb ORPHA:2181
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid ... OMIM:607326
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Short lower limbs, Scoliosis OMIM:259440
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Basal Cell Nevus Syndrome 1
Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hamartomatous stomach polyps, Hemi... OMIM:109400
Sandhoff Disease
Kyphosis ORPHA:796
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Spina bifida, Short neck, Hemivertebrae, Horseshoe k... ORPHA:99776
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Pes planus, Contracture of the proximal interphalangeal joint of the 2nd finger, K... OMIM:130060
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dysphagia OMIM:300857
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Cleft palate, High palate, Scoliosis, Intrauterine growth retardation OMIM:616038
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Abnormal spinal cord morphol... ORPHA:99947
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly OMIM:300337
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Scoliosis, Shor... OMIM:180870
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equinovarus, Scoliosis, Flexion ... OMIM:618484
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis ORPHA:2771
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2nd-5th finger... OMIM:609128
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Split hand, Areflexia of lower limbs, Scoliosis, Pes cavus OMIM:618124
Mucolipidosis Iii Gamma
Hyperlordosis, Flat capital femoral epiphysis, Kyphosis, Short neck, Genu valgum, Scoliosis OMIM:252605
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis OMIM:618237
Nail-Patella Syndrome
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Spina bifi... OMIM:161200
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Pes cavus, Scoliosis OMIM:610743
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... OMIM:184252
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Lower limb asymmetry, Hyperlordosis, Kyphosis, ... OMIM:615761
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lum... OMIM:177170
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Knee flexion contracture, Flexion contracture of... OMIM:619040
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... OMIM:603546
Progressive Pseudorheumatoid Dysplasia
Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enlarged metacarpophala... OMIM:208230
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Clinodactyly, Scoliosis, Short neck ORPHA:178148
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelomeningocele, Parapleg... ORPHA:268810
Ck Syndrome
Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis OMIM:300831
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Missing ribs, Diastomatomyelia, Meningocele, Duodenal stenosis ORPHA:1759
Horner Syndrome, Congenital
Paralysis OMIM:143000
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Spina bifida, Short neck, High, narrow palate, Hydrocephalus, Ankle clonus, High p... OMIM:613776
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Short neck,... ORPHA:2311
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary ribs, Spina bifida, Supernumerary vertebrae OMIM:193500
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... ORPHA:137834
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida oc... ORPHA:64755
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Myopathic Ehlers-Danlos Syndrome
Pes planus, Foot joint contracture, Kyphoscoliosis, Hyperlordosis, Tapered finger, Kyphosis, Ankl... ORPHA:536516
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Hypospadias, Spina bifida, Ectopic kidney, Esophageal atr... OMIM:192350
Aicardi Syndrome
Block vertebrae, Spina bifida, Hiatus hernia, Missing ribs, Hemivertebrae, Rib fusion, Cleft pala... OMIM:304050
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Ankle clonus, Short foot, Scoliosis OMIM:617435
Amish Lethal Microcephaly
Organic aciduria, Cleft soft palate, Spina bifida, Limb hypertonia ORPHA:99742
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Baralle-Macken Syndrome
Pes planus, Kyphosis, Tapered finger OMIM:619255
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Myopathy, Centronuclear, 2
Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Pes cavus OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Long foot, Scoliosis OMIM:300676
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Hemiparesis, Scoliosis, Spina bifida ORPHA:2874
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placement of thumb, Kypho... ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho... OMIM:223800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Abnormal metatarsal morphology, Hip subluxation, Kyphosis, Flat capital femoral e... ORPHA:93360
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle weakness, Peroneal muscle atrophy, Hyperlordosis, Kyphosis, Metatarsus adductus, ... OMIM:181405
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Kyphosis,... OMIM:618291
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... ORPHA:2916
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Camptodactyly of finger, Scoliosis ORPHA:48431
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Trisomy 18
Spina bifida, Esophageal atresia, Anencephaly, Abnormal rib morphology, Cleft palate, Narrow pala... ORPHA:3380
Arnold-Chiari Malformation Type I
Urinary incontinence, Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervica... ORPHA:268882
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... ORPHA:1908
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Short neck, Spinal r... ORPHA:94068
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm OMIM:300602
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... OMIM:617821
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Calf muscle hypertrophy, Kyphosis OMIM:618138
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Absent Achilles reflex, Ankle clonus, Scoliosis, Pes cavus OMIM:609541
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Jacobsen Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Short neck, Missing ribs, Pyl... ORPHA:2308
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... OMIM:619797
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly ORPHA:3085
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Lumbar Syndrome
Hypospadias, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux, Micropenis, Bla... ORPHA:83628
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Renal hypoplasia, Scoliosis, Spinal dysraphism OMIM:612918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... OMIM:606612
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Pes cavus, Scoliosis OMIM:614409
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... OMIM:607155
Intellectual Developmental Disorder, Autosomal Dominant 26
Clinodactyly of the 5th finger, Umbilical hernia, Kyphosis, Scoliosis OMIM:615834
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Sacral dimple, Kyphosis OMIM:618272
Sillence Syndrome
Back pain, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbous tips ... ORPHA:3168
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... ORPHA:15
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... OMIM:618019
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Spina bifida, Horseshoe kidney, Gastroesophageal reflux, Short ribs... ORPHA:2092
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Abnormal foot morphology, Joint contracture of the 5th finger, Scoliosis, Umbilical hernia ORPHA:352490
Neu-Laxova Syndrome
Spina bifida, Submucous cleft hard palate, Cleft palate, Opisthotonus, Scoliosis, Intrauterine gr... ORPHA:2671
Sialidosis Type 2
Umbilical hernia, Kyphosis, Pedal edema ORPHA:87876
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnormal diaphysis mor... ORPHA:3409
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, High, narrow palate, Narrow palate, Thin ribs, Choreoathetosis, High... OMIM:234100
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... ORPHA:175
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave vertebral bodies, Sc... OMIM:610968
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Kyphosis, Talipes equinovarus, Scolios... OMIM:300280
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Paralysis, Paralytic ileus, Urinary retention, Respiratory paralys... OMIM:176000
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Spina bi... ORPHA:508498
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, S... ORPHA:3121
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Arthrogryposis, Distal, Type 5
Arachnodactyly, Kyphosis, Absent phalangeal crease, Bilateral talipes equinovarus, Scoliosis, Con... OMIM:108145
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Femoral retroversion, Scoliosis, Micromelia ORPHA:79107
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypospadias, Cervical k... OMIM:114290
Ulnar Hemimelia
Butterfly vertebrae, Scoliosis, Spinal dysraphism ORPHA:93320
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Structural foot deformity, Kyphosis, Hip dislo... ORPHA:464282
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Genu valgum, Short neck ORPHA:2983
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253010
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly ORPHA:93274
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis OMIM:609008
Crisponi Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis ORPHA:1545
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Neurogenic bladder, Facial-lingual fasciculations, Babins... ORPHA:276244
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Tibial bowing, Scoliosis, Biconcave vertebral bodies OMIM:259420
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Foodborne Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Xerostomia, Urinary retention, Dysphagia ORPHA:228371
Holt-Oram Syndrome
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl... ORPHA:392
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Short 4th metacarpal, Polydactyly, Short 3rd metacarpal, Umbili... OMIM:169400
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Short neck, Chorea,... ORPHA:2162
Mucopolysaccharidosis Type 4
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,... ORPHA:582
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Scoliosis, Camptodactyly, C... OMIM:615547
Machado-Joseph Disease Type 1
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... ORPHA:276241
Stickler Syndrome, Type I
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Morbus Scheuermann, Scolios... OMIM:108300
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Abnormal metaphysis mo... ORPHA:2655
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck ORPHA:3191
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Aganglionic megacolon, Spina bifida, Abnormal prep... ORPHA:84
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Coxa valga, Kyphosis, Short metatarsal, Scoliosis OMIM:248800
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Spina bifida, Intestinal malrota... ORPHA:567
Osteogenesis Imperfecta, Type Iv
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... OMIM:166220
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Proximal placement of thumb OMIM:615433
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Spina bifida, Horseshoe kidney, Cleft palate, Fused cervical vertebrae, Syr... OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Spina bifida, Gastroesophageal reflux, Scoliosis, Bifid uvula OMIM:619480
Alpha-Mannosidosis
Kyphosis, Bowing of the long bones, Scoliosis, Short neck ORPHA:61
Cono-Spondylar Dysplasia
Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:230800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes planus, Sandal gap, Kyphosis, Small hand, Short foot, Pes cavus, Brachydactyly OMIM:300354
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Short neck, Kyphosis, Split hand, Hemivertebrae, Hypop... ORPHA:958
Snakebite Envenomation
Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney i... ORPHA:449285
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... ORPHA:1860
Basilar Impression, Primary
Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Kyphosis, Hip dislocation, Vertebral segmentation defect, Short... ORPHA:1005
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Wieacker-Wolff Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Talipes equino... OMIM:314580
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... OMIM:301041
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hyperlordosis... ORPHA:2616
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Talipes equinovarus, Scol... OMIM:254090
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Hip dislocation, Genu valgum, Scoliosis, Ge... ORPHA:171436
Atypical Rett Syndrome
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:3095
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me... ORPHA:2050
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Myelomeningocele, Abnormal toe ... ORPHA:94065
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Absent Achilles reflex, Scoliosis, Hyperlordosis OMIM:128100
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Sacral dimple, Hypospadias, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Sacral dimple, Hypospadias, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus,... ORPHA:363958
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Ataxia, Kyphosis, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle clonus,... OMIM:211530
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Myasthenic Syndrome, Congenital, 20, Presynaptic
Pes planus, Kyphosis, Scoliosis OMIM:617143
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Meningocele, Abnormal rib morphology ORPHA:991
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Vocal cord paralysis, Gastroesophageal reflux, Myoclonus, Scoliosis, Dysphagi... ORPHA:500144
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Abnormal metaphysis morphology ORPHA:583
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Hypo... ORPHA:98855
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Scoliosis OMIM:162200
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Spasticity ORPHA:803
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate, Supernumerary vertebrae, Micropenis OMIM:263750
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, P... OMIM:610915
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Talipes, Spinal rigidity, Kyphosis, Achilles tendon contract... OMIM:620351
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Achilles tendon contracture, Sco... ORPHA:98863
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... OMIM:253220
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Hip dislocation, Short neck OMIM:608776
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Urinary incontinen... ORPHA:322
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma ORPHA:324737
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Palmoplantar cutis laxa, Femoral bowing, Tibial bowin... OMIM:616482
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly ORPHA:261222
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... OMIM:618443
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Scoliosi... ORPHA:2789
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Dysostosis, Stanescu Type
Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Abnormal me... ORPHA:1798
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Prox... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Prox... ORPHA:98853
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Hip dislocati... ORPHA:140
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly OMIM:258850
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of toe, Dislocated ra... OMIM:265000
Rubinstein-Taybi Syndrome 1
Incoordination, Hypospadias, Spina bifida, High, narrow palate, Poor coordination, Cleft palate, ... OMIM:180849
Hurler-Scheie Syndrome
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Kyphosis... OMIM:607015
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Inhalational Botulism
Xerostomia, Urinary retention, Paralysis ORPHA:254504
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Scoliosis OMIM:617190
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Kyphosis, Small hand, Short foot... ORPHA:85293
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... ORPHA:37553
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Short neck, Kyphosis, Deep plantar creases, Scol... ORPHA:254346
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Large hands, Flared ... OMIM:277590
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydac... ORPHA:404440
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Limitation of knee mobility... OMIM:203500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t... ORPHA:508533
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... OMIM:619951
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Er... OMIM:618476
Harrod Syndrome
Kyphosis, Arachnodactyly, Scoliosis ORPHA:2115
Rift Valley Fever
Back pain, Paralysis, Hematemesis, Paraparesis, Hematuria, Melena, Hemiparesis, Decerebrate rigidity ORPHA:319251
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Short neck, Kyphoscoliosis, Hydrocephalus, Cleft palate, Platyspondyly... OMIM:304120
Fibular Hemimelia
Spina bifida ORPHA:93323
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Knee dislocation, Shor... OMIM:143095
Rett Syndrome
Short foot, Kyphosis, Scoliosis OMIM:312750
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Pes cavus, Scoliosis ORPHA:88644
Marden-Walker Syndrome
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Talipes equinovarus, Scoliosis, Camp... OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... OMIM:617061
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... OMIM:259770
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Genitopalatocardiac Syndrome
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Poliomyelitis
Paralysis, Paraparesis, Paralytic ileus, Hyperkinetic movements, Fasciculations, Dysphagia, Myelitis ORPHA:2912
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis OMIM:267200
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspo... ORPHA:354
X-Linked Intellectual Disability Due To Gria3 Mutations
Pes planus, Kyphosis, Genu recurvatum, Scoliosis ORPHA:364028
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, High palate, Gastroesophageal reflux, Six lumbar vertebrae ORPHA:65286
Pycnodysostosis
Brachydactyly, Rhizomelia, Hyperlordosis, Lower limb asymmetry, Kyphosis, Small hand, Short foot,... ORPHA:763
3C Syndrome
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Brachydactyly ORPHA:7
Tick-Borne Encephalitis
Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc... ORPHA:297
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Meningocele, Scoliosis, Umbilical hernia, Biconcave verte... OMIM:130720
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Coffin-Lowry Syndrome
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ... ORPHA:192
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Jaberi-Elahi Syndrome
Hand clenching, Kyphosis, Talipes equinovarus, Scoliosis OMIM:617988
Neu-Laxova Syndrome 1
Spina bifida, Short neck, Cleft palate, Short umbilical cord, Small placenta, Hydranencephaly, In... OMIM:256520
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Ectrodactyly, Scoliosis ORPHA:3378
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Pes planus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc... ORPHA:536532
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Paralysis OMIM:612300
Hurler Syndrome
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... OMIM:607014
Megalocornea-Intellectual Disability Syndrome
Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum ORPHA:2479
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasi... ORPHA:476126
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios... OMIM:301040
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:2215
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoli... ORPHA:96169
Glossopharyngeal Neuralgia
Vocal cord paralysis, Odynophagia, Abnormality of the cervical spine, Oral-pharyngeal dysphagia ORPHA:221098
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Clinodactyly of t... ORPHA:568
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Anterior rib cupping, Kyphoscoliosis, Short neck, Large placenta, Abnormality of the costochondra... ORPHA:96334
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, S... ORPHA:2911
Glioblastoma
Paralysis ORPHA:360
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Genu valgum, Finger joint hypermobility, Scoliosis OMIM:618493
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Scol... OMIM:203700
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplasia of the femur, Sc... ORPHA:2769
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5... OMIM:617602
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Finger syndactyly, Scoliosis, Genu varum ORPHA:1969
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Kyphoscoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination, Scoli... ORPHA:99956
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Cleft palate, High palate, Scoliosis, Periodic hypokalemic paresis OMIM:170390
Emanuel Syndrome
Kyphosis, Sacral dimple, Congenital hip dislocation, Scoliosis OMIM:609029
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Oculomotor apraxia, Spastic paraplegia, Esophageal varix, Hydrocephalus, Limb ataxia, ... ORPHA:2072
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly OMIM:619123
Cowden Syndrome 5
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615108
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Gitelman Syndrome
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal po... OMIM:263800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Abnormally ossified vertebrae, Hyperlordosis, Scoliosis, Umbil... ORPHA:800
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Camurati-Engelmann Disease
Pes planus, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna... ORPHA:1328
Rett Syndrome, Congenital Variant
Pes planus, Kyphosis, Talipes equinovarus, Scoliosis OMIM:613454
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
2P15P16.1 Microdeletion Syndrome
Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, P... ORPHA:261349
Noonan Syndrome 14
Pes planus, Short neck, Kyphosis, Pes valgus, Clinodactyly OMIM:619745
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Split hand, Umbilical hernia, Pes cavus OMIM:309900
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Pedal edema ORPHA:77259
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc... ORPHA:464738
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia ORPHA:684
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Bowing of the long bones, Short humerus, Lateral femoral bowing OMIM:239000
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, 2-3 toe syndactyly, Scoliosis OMIM:616449
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Scoliosis, Pes cavus, Proximal femoral epiphysiolysis OMIM:162300
Cowden Syndrome 6
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:615109
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Positional foot deformity, Hip dislocation, Scoliosis,... OMIM:610443
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... ORPHA:18
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Slender toe, Genu valgum... ORPHA:193
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Metatarsus ad... OMIM:249420
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Bowing of the legs, Kyphosis, Platyspondyly, Limb undergrowth, Short dista... ORPHA:1855
Distal Triplication 15Q
Kyphosis, Arachnodactyly, Scoliosis, Camptodactyly ORPHA:314588
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap... ORPHA:1507
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan... OMIM:616894
Marfanoid-Progeroid-Lipodystrophy Syndrome
Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Long fingers, Pes ... OMIM:616914
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Tremor, Paralysis, Tetraplegia, Respiratory paralysis, Urinary reten... ORPHA:79102
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot OMIM:617011
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:500055
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Kyphosi... ORPHA:521426
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Intellectual Developmental Disorder, Autosomal Dominant 57
Pes planus, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scolio... OMIM:618050
16Q24.3 Microdeletion Syndrome
Kyphosis, Proximal placement of thumb, Scoliosis ORPHA:261250
Schinzel-Giedion Syndrome
Short neck, Vocal cord paralysis, Renal cyst, Anteriorly placed anus, Hypertonia, High palate, He... ORPHA:798
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Alstrom Syndrome
Pes planus, Kyphosis, Scoliosis OMIM:203800
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding coccyx, Prom... OMIM:300966
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, ... ORPHA:3042
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Monosomy 9Q22.3
Short neck, Kyphosis, Plantar pits, Abnormality of the vertebral column, Polydactyly, Umbilical h... ORPHA:77301
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Cowden Syndrome 1
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis OMIM:158350
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Renal insufficiency, Periodic paralysis, Nephrocalcinosis, Paralytic... OMIM:276700
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Palmoplantar hyperhidrosis OMIM:617527
Marshall-Smith Syndrome
Hallux valgus, Thoracic scoliosis, Kyphoscoliosis, Bullet-shaped middle phalanges of the hand, Hy... OMIM:602535
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Prader-Willi Syndrome
Syndactyly, Kyphosis, Acromicria, Small hand, Genu valgum, Short foot, Scoliosis, Short palm, Rad... OMIM:176270
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture OMIM:619708
Wolf-Hirschhorn Syndrome
Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Abnormal foot morphology, Spl... ORPHA:280
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl... ORPHA:955
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Exaggerated median tongue furrow, Hypo... OMIM:312870
Occipital Horn Syndrome
Pes planus, Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the ca... ORPHA:198
Cleidocranial Dysplasia 1
Brachydactyly, Short middle phalanx of the 2nd finger, Kyphosis, Hip dislocation, Coxa vara, Cone... OMIM:119600
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Knee flexion contracture... OMIM:619194
Atelis Syndrome 2
Pes planus, Kyphosis, Sacral dimple, Clinodactyly OMIM:620185
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Marden-Walker Syndrome
Arachnodactyly, Talipes, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Abnormal form of... ORPHA:2461
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Structural foot deformity, Kyphosis, Polydactyly, ... ORPHA:464306
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Hand po... ORPHA:401973
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... OMIM:300960
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Increased femoral anteversion, Scoliosis OMIM:619005
Cdags Syndrome
Kyphosis OMIM:603116
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... ORPHA:464311
Mgat2-Cdg
Kyphosis, Scoliosis, Brachydactyly ORPHA:79329
Occipital Horn Syndrome
Pes planus, Short humerus, Coxa valga, Kyphosis, Capitate-hamate fusion, Genu valgum, Platyspondy...