Not currently registered for phenotyping at IMPC

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

Gene Summary

LIM and SH3 protein 1
SH3P6,  Def-4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Lasp1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Lasp1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Cleft palate, Flattened ep... ORPHA:166016
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Spina bifida occulta... OMIM:601829
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Hemivertebrae, Spina bifida occulta, Rib segmentation ab... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Posterior rib fusion, Missing ribs, Spina bifida occulta, Cleft palate,... ORPHA:1797
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Missing ribs, S... OMIM:613686
Posterior Column Ataxia
Scoliosis OMIM:176250
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of lower limb joint ORPHA:85164
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormality of the knee, Abnormal vertebral morphology,... ORPHA:163665
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality, Slender long bone, Spina bifida occulta... ORPHA:2840
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Osteopeni... OMIM:271530
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Long toe, Cleft lip, Cleft palate OMIM:300263
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metacarpa... ORPHA:3104
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Nemaline Myopathy 9
Scoliosis, High palate, Arthrogryposis multiplex congenita, Cleft palate OMIM:615731
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Abnormality of the dentitio... ORPHA:177
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Lumbar hyperlordos... OMIM:169550
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... OMIM:609052
White Forelock With Malformations
Finger syndactyly, Joint hyperflexibility, Abnormal palate morphology, Deep philtrum, Spina bifid... ORPHA:2475
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... OMIM:609324
Anauxetic Dysplasia 1
Platyspondyly, Cervical cord compression, Delayed ossification of carpal bones, Hypoplastic ilia,... OMIM:607095
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Acrofacial Dysostosis, Catania Type
Carious teeth, Spina bifida occulta, Short palm OMIM:101805
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Genu varum, Hyperconvex v... OMIM:184255
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Scoliosis, Cervical platyspondyly OMIM:600000
Cleidocranial Dysplasia
Scoliosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Abnormalit... ORPHA:1452
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Thin vermilion border, Short philtrum, Downturned corners of mouth, Kyphosis, Reduce... ORPHA:2983
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Long philtrum, Camptodactyly of finger, Abnormal form of the vertebral bodies, Finger ... ORPHA:2311
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphos... ORPHA:3219
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Three M Syndrome 1
Hyperlordosis, Long philtrum, Increased vertebral height, Joint hypermobility, Thick lower lip ve... OMIM:273750
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Thin vermilion border, Short philtrum, Short m... OMIM:156510
Cardiomegaly OMIM:227150
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Metaphyseal enchondromatos... ORPHA:85198
Hypertrichosis, Congenital Generalized
Scoliosis OMIM:307150
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal form of the vertebral bodies, Finger synda... ORPHA:1787
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft palate,... OMIM:184840
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac ... ORPHA:2780
Isotretinoin Syndrome
Cleft palate, Sacral dimple, Spina bifida occulta ORPHA:2305
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality... ORPHA:2501
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Platyspondyly, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Abno... ORPHA:99642
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... OMIM:617877
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Kyphosis, Rib fusion, Spina bifida occulta, Supernume... ORPHA:64755
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Spina bifida ... OMIM:618736
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Hip dysplasia, Intervertebral disc degeneration, Genu valgum,... ORPHA:93311
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm ORPHA:168555
Pyle Disease
Scoliosis, Platyspondyly, Carious teeth, Genu valgum, Delayed eruption of teeth, Limited elbow ex... OMIM:265900
Osteogenesis Imperfecta, Type V
Platyspondyly, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Oligodontia, Genu valgum, Metaphyseal irregularity, Narrow iliac wing, Irregular v... OMIM:601668
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, High palate, Advanced ossification... OMIM:618363
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Downturned corners of mouth, Genu recurvatum, Joint hyperflexibility, Thick vermi... ORPHA:1185
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Disorganization, Mouse, Homolog Of
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... OMIM:223200
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Gordon Syndrome
Scoliosis, Camptodactyly of finger, Finger syndactyly, Cleft palate, High palate, Clinodactyly of... ORPHA:376
Craniosynostosis 6
Scoliosis, Delayed cranial suture closure, Craniosynostosis, Spina bifida occulta OMIM:616602
Arthrogryposis, Distal, Type 2A
Scoliosis, Pursed lips, Restricted neck movement due to contractures, Narrow mouth, Dental crowdi... OMIM:193700
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Anterior r... OMIM:184250
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Platyspondyly, Delayed pubic bone ossification, Abnormal hip... ORPHA:1856
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Acrocraniofacial Dysostosis
Genu valgum, Short philtrum, Craniosynostosis, Broad thumb, Abnormal form of the vertebral bodies... ORPHA:949
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Sprengel Deformity
Abnormal shoulder morphology, Short neck, Cleft palate ORPHA:3181
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Cleft palate, Short long bone, Flared me... OMIM:601561
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Cleft palate, High palate, Short neck OMIM:616038
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Beaded ribs, Recurrent fractures, Decreased ca... OMIM:259440
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short neck, Abnormal vertebral morphology, Cleft palate ORPHA:2015
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... OMIM:608728
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Metatropic Dysplasia
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Platyspondyly, Camptodactyly of finger, Osteoporosis, Enlarged interphalang... OMIM:208230
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Sp... OMIM:201000
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Abnormality of the dentition, Abnormal joint morphology, Moderate generalized oste... OMIM:166230
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviati... ORPHA:2437
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... OMIM:259450
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Lumbar hyperlordosis... OMIM:602484
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Multiple joint contractures... ORPHA:916
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Dumbbell-shaped femur, Coronal cleft vertebrae, Hitchhiker thumb, Short... OMIM:256050
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Arthrogryposis, Distal, Type 1C
Scoliosis, Pursed lips, Thin vermilion border, Rocker bottom foot, Shoulder flexion contracture, ... OMIM:619110
Partington Syndrome
Macroorchidism ORPHA:94083
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoa... OMIM:271600
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Kyphosis, Short finger, Sclerosis of skull base, Thoracolumbar sc... OMIM:313420
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Limited... OMIM:271650
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Spina bifida occulta OMIM:239711
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip... ORPHA:294975
Split Cord Malformation Type I
Scoliosis ORPHA:1671
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, De... ORPHA:71267
3Mc Syndrome
Scoliosis, Hyperlordosis, Craniosynostosis, Radioulnar synostosis, Downturned corners of mouth, U... ORPHA:293843
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Thin vermilion border, Narrow mouth, Abnormal form of the vertebral bod... ORPHA:2370
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Joint hyperflexibility, ... ORPHA:1388
Larsen Syndrome
Scoliosis, Short metatarsal, Joint laxity, Elbow dislocation, Spinal cord compression, Spina bifi... OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Multiple joint dislocation, Joint laxity, Metap... OMIM:618395
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Cleft upper lip, Spina bifida occulta, Cleft palate OMIM:268850
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... ORPHA:1426
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... ORPHA:93315
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruptio... OMIM:265800
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Sh... OMIM:226900
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Joint hyperflexibility, Spina bifida occulta ORPHA:230839
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Abnormality of the ribs, Genu valgum, Short metatarsal, Upper limb u... ORPHA:93351
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Abnormality of the tongue, Long philtrum, Camptodactyly of finger, Arthrogryposis mult... ORPHA:2990
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... ORPHA:1646
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o... ORPHA:93346
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism OMIM:300624
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... OMIM:245160
Acrofacial Dysostosis, Catania Type
Carious teeth, Finger syndactyly, Abnormal palate morphology, Smooth philtrum, Abnormality of the... ORPHA:1786
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:429
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Camptodactyly, Natal toot... OMIM:300373
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Thin vermilion border, Long philtrum, Dislocated radial head, Joint hyp... OMIM:614856
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Short neck, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fu... ORPHA:66637
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Anal atresia, Lower limb undergrow... ORPHA:2310
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Short palm, Small hand, Cone-shaped epiphyses of... ORPHA:85172
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder mo... OMIM:218600
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Scoliosis, Hip dysplasia, Knee dislocation, Hip dislocation, Hammertoe ORPHA:370943
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyl... ORPHA:3098
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Irregular epiphyses, Hypoplastic iliac wi... OMIM:313400
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Thoracic kyphosis, Ovoid vert... ORPHA:163649
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Spinal dysplasia, Thora... OMIM:601344
Bruck Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Wormian bones, Kyphos... ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow... OMIM:602271
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ec... ORPHA:2345
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Short femoral neck, High palate, Flat capital femoral epip... OMIM:612350
Distal Monosomy 10Q
Hip dysplasia, Craniosynostosis, Short metatarsal, Smooth philtrum, Sandal gap, Lumbar hyperlordo... ORPHA:96148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Spina bifida occulta, Rectal ... OMIM:235510
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Autosomal Recessive Stickler Syndrome
Platyspondyly, Genu valgum, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... ORPHA:250984
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Duodenal atresia, Spina bifida occulta, Fused ce... OMIM:619227
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Large elb... OMIM:253000
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... OMIM:215150
3Mc Syndrome 1
Wide anterior fontanel, Radioulnar synostosis, Dental crowding, Single interphalangeal crease of ... OMIM:257920
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Avascul... OMIM:184100
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Clinodactyly, Short neck, Epiphyseal... OMIM:184000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... OMIM:603546
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Cleft palate OMIM:221950
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Platyspondyly, Abnormality of the knee, Abnormality of dental morphology, Metaphyse... ORPHA:319195
Alagille Syndrome
Short philtrum, Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Short distal phala... ORPHA:52
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of the metaphysis, Short fem... ORPHA:157965
Fragile X Syndrome
Mitral valve prolapse, Gastroesophageal reflux, Macroorchidism ORPHA:908
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Cervical ... OMIM:253010
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Joint laxity, Phalangeal dislocation, Broad first meta... OMIM:251450
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Brachyolmia Type 3
Scoliosis, Platyspondyly, Proximal femoral metaphyseal irregularity, Kyphosis, Radial deviation o... OMIM:113500
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Carious teeth, Osteoporosis, Recurrent fractures, Osteopenia, Femoral b... OMIM:126550
Kuskokwim Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Aplasia/Hypop... ORPHA:1149
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnormality of epiph... ORPHA:90653
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Hypoplasia of the odontoid process, Phalangeal dislo... OMIM:264180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short philtrum, Abnormality of the ribs, Downturned corners of mouth, Abnormality ... ORPHA:93267
Kniest Dysplasia
Platyspondyly, Enlarged joints, Delayed epiphyseal ossification, Coronal cleft vertebrae, Hypopla... OMIM:156550
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Spinal cord compression, Flat acetabular roof, Small epiphyses, Short femoral neck, Sh... ORPHA:94068
Schneckenbecken Dysplasia
Anterior rib cupping, Advanced tarsal ossification, Metaphyseal irregularity, Ovoid vertebral bod... OMIM:269250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Brachydactyly, F... ORPHA:1436
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, S... OMIM:187601
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Horizontal sacr... OMIM:112350
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Delayed pubic bone ossification, Pierre-Robin... OMIM:183900
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Short humerus, Coxa vara, Short metacarp... OMIM:601438
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Herniation of intervertebral nuclei, Interve... OMIM:601216
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Long upper lip, Carpal synostosis, Flared metaphysis, Hip dislocatio... OMIM:615349
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Narrow mouth, Downturned corne... OMIM:211910
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Genu v... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Wormian bones, Flared iliac wing, Thoracic kyphosis, Short f... OMIM:300232
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... ORPHA:93360
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Abnormality of epiphysis morphology, Kyph... ORPHA:93314
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cu... OMIM:151210
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Toe syndactyly, Anal stenosis, Thin upper lip vermilion, Rectovaginal fistula, ... OMIM:300707
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... ORPHA:90650
Oligodontia, Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to... OMIM:224300
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Coronal c... ORPHA:2347
Poland Syndrome
Scoliosis, Absent hand, Split hand, Hemivertebrae, Unilateral brachydactyly, Spina bifida occulta... ORPHA:2911
Scoliosis, Platyspondyly, Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, ... ORPHA:166272
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin upper lip vermilion,... OMIM:617866
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Hemivertebrae, Vertebral fusi... OMIM:122600
Dubowitz Syndrome
Scoliosis, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus, Spina bifida occulta, ... ORPHA:235
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Short ribs, Coarse metaph... OMIM:618961
Maxillonasal Dysplasia
Scoliosis, Open bite, Tooth agenesis, Short distal phalanx of finger, Aplasia/Hypoplasia of the d... ORPHA:1248
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Recurrent fractures, Osteopenia, Vertebral wedging OMIM:301014
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Scoliosis, Camptodactyly, Joint contracture of the hand, Hammertoe, Arachnodactyly OMIM:211930
Townes-Brocks Syndrome 2
Scoliosis, Rectovaginal fistula, Anal atresia, Spina bifida occulta OMIM:617466
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Coxa valga OMIM:230600
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Wormian bones, Recurrent fractures, ... OMIM:619131
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... OMIM:300863
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Orofaciodigital Syndrome V
Scoliosis, Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulat... OMIM:174300
X-Linked Intellectual Disability, Abidi Type
Scoliosis, Non-midline cleft lip, Cleft palate ORPHA:85273
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Fused cerv... OMIM:214300
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Pierre-Robin sequence, Kyphosis, Spondylol... OMIM:108300
Van Esch-O'Driscoll Syndrome
Scoliosis, Bifid uvula, Spina bifida occulta OMIM:301030
Zimmermann-Laband Syndrome 1
Scoliosis, Delayed eruption of teeth, Gingival fibromatosis, Short distal phalanx of toe, Umbilic... OMIM:135500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... OMIM:166210
Popliteal Pterygium Syndrome
Cleft palate, Cutaneous finger syndactyly, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Sp... OMIM:119500
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Metaphyseal Acroscyphodysplasia
Scoliosis, Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Aplasia of metacarpal bones, Anal stenosis, Preaxial polydac... OMIM:607323
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica... ORPHA:93320
Keratoconus Posticus Circumscriptus
Short neck, Cleft palate, Limited elbow extension and supination, Cleft upper lip, Abnormal verte... OMIM:244600
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Limited elbow extension... ORPHA:239
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Au-Kline Syndrome
Scoliosis, Hip dysplasia, Oligodontia, Craniosynostosis, Downturned corners of mouth, Open mouth,... OMIM:616580
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati... OMIM:108721
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Kniest Dysplasia
Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage col... ORPHA:485
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Spina bifida occulta, Short foot, Abnormality of the ribs, Osteopenia, Short neck, Th... ORPHA:488434
Bruck Syndrome 2
Platyspondyly, Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractur... OMIM:609220
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Syndactyly, Cleft palate... OMIM:614701
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Distal ulnar hypoplasia, Genu valgum, Hypoplastic p... OMIM:304950
Duane Retraction Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Preaxial hand polydactyly, Abnormal form of the ve... ORPHA:233
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture OMIM:616507
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffn... ORPHA:296
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Joint laxity, Dental crowding, Flat acetabular roof, Toe cl... OMIM:615777
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Osteoarthritis ORPHA:1345
Femoral-Facial Syndrome
Scoliosis, Long philtrum, Hip dysplasia, Short femur, Abnormality of pelvic girdle bone morpholog... ORPHA:1988
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Fused cervical v... OMIM:309620
Chst3-Related Skeletal Dysplasia
Scoliosis, Long philtrum, Delayed eruption of teeth, Genu valgum, Cubitus valgus, Enlarged joints... ORPHA:263463
Sheldon-Hall Syndrome
Scoliosis, Overlapping fingers, Tarsal synostosis, Adducted thumb, Aplasia/Hypoplasia of the radi... ORPHA:1147
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Long p... OMIM:228520
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Iliac cres... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Overlapping toe, Osteopenia, Thick vermilion border, Tented uppe... OMIM:616723
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Radial bowing, Wormian bones, Wide anterior fontanel, Joint laxity, Kyp... OMIM:610915
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Cantu Syndrome
Short hallux, Platyspondyly, Long philtrum, Erlenmeyer flask deformity of the femurs, Hypoplastic... OMIM:239850
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... ORPHA:457395
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bones, Metaphyseal cu... ORPHA:85166
Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Craniofacial hyperos... ORPHA:1782
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Abnormality of the dent... OMIM:610968
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... ORPHA:2078
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Hypopl... OMIM:187760
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Congenital ... OMIM:114300
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Hypopla... OMIM:614524
Brachydactyly Type A1
Scoliosis, Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Dentinogenesis imperfecta, N... OMIM:616294
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped car... ORPHA:968
Incontinentia Pigmenti
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Absent hand, Camptodacty... ORPHA:464
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Smith-Mccort Dysplasia 2
Platyspondyly, Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Anauxetic Dysplasia 3
Platyspondyly, Oligodontia, Hip subluxation, Genu valgum, Wide anterior fontanel, Squared iliac b... OMIM:618853
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturne... ORPHA:2107
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Microspherophakia-Metaphyseal Dysplasia
Metaphyseal dysplasia, Spinal stenosis with reduced interpedicular distance, Flattened moderately... OMIM:157151
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Abnormality of... ORPHA:2369
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, ... ORPHA:163966
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Six lumbar vertebrae, Unilateral cleft lip, Supernumerary ribs, Unilateral c... OMIM:619122
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Hemivertebrae, Short distal ... ORPHA:79500
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Irregular iliac crest, Abnormality of t... ORPHA:168549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Abnormal form of the ve... ORPHA:2916
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Dystonia, Juvenile-Onset
Cleft palate, Hypoplastic scapulae, Cleft upper lip, Kyphoscoliosis OMIM:607371
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Umbilical hernia, Shoulder dislocation, High, narrow... ORPHA:2181
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Finger clinodactyly, Thoracic kyphosis, Persistent open an... ORPHA:2332
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Lowry-Wood Syndrome
Platyspondyly, Dislocated radial head, Abnormality of epiphysis morphology, Elbow dislocation, Ir... ORPHA:1824
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cupped costochondra... OMIM:187600
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Male hypogonadism, Increased circulating ... ORPHA:91349
Shox-Related Short Stature
Scoliosis, Genu valgum, Cubitus valgus, Ulnar radial head dislocation, Madelung deformity, Tibial... ORPHA:314795
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Slender long bone, Reduced bone mineral density, Joint stiffness ORPHA:262
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... ORPHA:93307
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Long philtrum, Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of th... OMIM:618958
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Tarsal synostosis, Abnormal form of the vertebral bodies, Finger... ORPHA:3429
Leopard Syndrome 1
Cubitus valgus, Limited elbow movement, Spina bifida occulta, Cleft palate, Kyphoscoliosis, Short... OMIM:151100
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Irregular epiphyses, Flexion contrac... OMIM:601560
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Carious teeth, Wormian bones, Cubitus valgus, Wide anterior fontanel, Bro... OMIM:269300
Focal Dermal Hypoplasia
Scoliosis, Enamel hypoplasia, Oligodontia, Short metatarsal, Congenital hip dislocation, Short ph... OMIM:305600
Achondrogenesis, Type Ii
Broad long bones, Hypoplastic iliac wing, Horizontal ribs, Absent vertebral body mineralization, ... OMIM:200610
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Kyphosis, Short sternum, Bifid tongue, Supernumerary ... OMIM:258850
Camptodactyly Syndrome, Guadalajara, Type Iii
Absent phalangeal crease, Camptodactyly, Joint contracture of the hand, Spina bifida occulta, Sho... OMIM:611929
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Genu valgum, Widely spaced teeth, Flexion contr... OMIM:253220
Osteogenesis Imperfecta, Type Iv
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... OMIM:166220
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Abnormal hip bone morphology, Joint stiffness, Cleft palate, Abnormality of lower... ORPHA:1166
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Platyspondyly, Shoulder flexion contracture, Osteoporosis, Narrow mouth, Coronal cle... OMIM:255800
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... ORPHA:93160
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Female external ... ORPHA:90790
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Cervical C2/C3 vertebral fusion, Cleft palate, Ab... OMIM:118100
Coffin-Siris Syndrome 1
Scoliosis, Joint laxity, Intestinal malrotation, Sandal gap, Aplasia/Hypoplasia of the distal pha... OMIM:135900
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Camptodactyly, Adducted thumb, Furr... OMIM:615065
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:616030
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Sho... OMIM:601356
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Short femur, Beaded ribs, Flexion contracture, Adducted thumb, Decr... OMIM:616897
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Decreased calvarial ossification, Metaphyseal cupping, Abnormali... OMIM:241500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Spina... OMIM:271640
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Camptodactyly of finger, Narrow palate, Narrow mouth, Synostosis of car... ORPHA:1323
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Vertebral segm... ORPHA:1104
17Q12 Microduplication Syndrome
Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Cleft palate, Tracheoesophageal... ORPHA:261272
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Thin vermilion border, Long philtrum, Thoracic kyphosis, Joint hyper... ORPHA:85194
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Long philtrum, Osteoporosis, Broad ribs, Finger syndactyly, Ovoid ve... ORPHA:1517
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Kniest-Like Dysplasia, Lethal
Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Narrow mouth, Metaphyseal irregul... OMIM:245190
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Hemivertebrae OMIM:604919
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Joint laxity, Generalized joint laxity, Bowing... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Joint laxity, Short finger, Irregular epiphyses, Lumbar hyperlordosis... OMIM:612813
Larsen Syndrome
Scoliosis, Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones,... ORPHA:503
Thanatophoric Dysplasia
Abnormal ilium morphology, Platyspondyly, Hip dysplasia, Joint hyperflexibility, Kyphosis, Joint ... ORPHA:2655
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femoral bowing OMIM:615066
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... ORPHA:3320
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Abnormality of the vertebral column, Abnormal vertebral morphology, 2-3 toe syndact... OMIM:239800
Cleidocranial Dysplasia
Scoliosis, Enamel hypoplasia, Wormian bones, Narrow palate, Persistent open anterior fontanelle, ... OMIM:119600
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the metacarpal bones, Abnormal... ORPHA:2167
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... OMIM:263750
Cole-Carpenter Syndrome 1
Scoliosis, Orbital craniosynostosis, Communicating hydrocephalus, Hydrocephalus, Recurrent fractu... OMIM:112240
Scoliosis, Long philtrum, Anterior rib cupping, Squared iliac bones, Metaphyseal cupping, Hypopla... OMIM:258480
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, ... OMIM:311300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Wormian bones, Deep philtrum, Dysplastic sacrum, Metaphyseal cupping, Severe... OMIM:613320
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Solitary medi... ORPHA:2712
Cutis Laxa, Autosomal Dominant 2
Scoliosis OMIM:614434
Cole-Carpenter Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Abnormal ... ORPHA:2050
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Short Stature And Facioauriculothoracic Malformations
Cervical ribs, Abnormality of the odontoid process, Cleft upper lip, Cleft palate, High palate, S... OMIM:609654
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Radial bowing, Short femur, Bowed humerus, Dumbbell-shaped h... OMIM:211350
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Small cervical vertebral bodies, Genu valgum, Cervical platyspondyly, ... OMIM:169170
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2839
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Bowing of the long bones, Metap... ORPHA:85167
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Dislocated radial head, Delayed ossification of carpal bones, Metaphyseal dysplasi... OMIM:617425
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Camptodactyly of finger, Narrow mouth, Wide anterior fontanel, Abnormal form of the vertebral bod... ORPHA:2021
Orofaciodigital Syndrome Type 5
Scoliosis, Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxia... ORPHA:2919
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Short foot, Clinodactyly, Small han... ORPHA:96184
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Macroglossia, Abnormal thumb morphology, Camptodactyly, Thick vermilion... ORPHA:500095
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Broad ribs, Biconcave vertebral bodies, Short ribs, Short hum... OMIM:610319
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sandal gap, Abnormal pelvi... OMIM:215140
Attrv30M Amyloidosis
Constipation, Diarrhea, Cardiomegaly, Cardiomyopathy ORPHA:85447
Trisomy 20P
Scoliosis, Thin vermilion border, Downturned corners of mouth, Short neck, Preaxial hand polydact... ORPHA:261318
Rubinstein-Taybi Syndrome 1
Scoliosis, Enamel hypoplasia, Joint hypermobility, Narrow palate, Narrow mouth, Broad thumb, Dent... OMIM:180849
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Wide anterior fontanel, Short distal phalanx of finger, Flared m... OMIM:618150
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Everted lower lip vermilion, Bone cyst, Non-midline cl... ORPHA:1752
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Genu valgum, Limited elbow extension, Metaphyseal irregularity, Biconcave vertebra... OMIM:271510
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow il... OMIM:250420
Noonan Syndrome With Multiple Lentigines
Scoliosis, Spina bifida occulta ORPHA:500
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Corona... OMIM:108720
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Anterior... OMIM:260660
Larsen-Like Syndrome
Wide anterior fontanel, Joint laxity, Radial deviation of the 4th finger, Joint dislocation, Clef... OMIM:608545
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Abnormal... ORPHA:1512
Thanatophoric Dysplasia Type 2
Platyspondyly, Holoprosencephaly, Kyphosis, Joint hyperflexibility, Limitation of joint mobility,... ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Short philtrum, Dental crowding, Recurrent fractures, Long fingers, Long hallux, Cl... OMIM:309583
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Scoliosis, Platyspondyly, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the ... OMIM:619269
Williams Syndrome
Scoliosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Joint laxity, Increased b... ORPHA:904
Myhre Syndrome
Platyspondyly, Thin vermilion border, Large iliac wing, Abnormality of the ribs, Narrow mouth, Ab... ORPHA:2588
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Wide anterior fontanel, Split hand, Kyphosis, Short greater sciatic n... ORPHA:1860
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Camptodactyly of finger, Intervertebral disc degeneration, Protrusio acetabuli, Osteop... ORPHA:284984
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lateral displacement of the femoral hea... OMIM:242900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Scoliosis, Enamel hypoplasia, Oligodontia, Joint hypermobility, Dental crowding, Pierre-Robin seq... OMIM:619184
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Osteopetrosis, Metaphyseal widening, Hydrocephalus OMIM:618476
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Hamartoma of tongue, Intestinal malrotation, Horizontal ribs, Postaxial polydactyly, S... OMIM:613091
Marshall Syndrome
Radial bowing, Platyspondyly, Long philtrum, Pierre-Robin sequence, Wide tufts of distal phalange... OMIM:154780
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Narrow mouth, Sanda... OMIM:245600
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Long philtrum, Downturned corners of mouth, Pathologic fracture, Osteop... OMIM:612394
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Constipation, Macroorchidism, Pituitary hypothyroidism, Increased circulating prolactin c... ORPHA:90674
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
3Q29 Microdeletion Syndrome
Short philtrum, Dental crowding, Joint hyperflexibility, Everted lower lip vermilion, Six lumbar ... ORPHA:65286
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Toe syndactyly, Finger syndactyly, Split hand, Non-midline cleft lip, Lip pit, Thin up... ORPHA:1300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phal... ORPHA:536467
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... OMIM:250220
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Ab... ORPHA:90652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Vomiting, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... ORPHA:1505
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Ambiguous genitalia... ORPHA:91
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Abnormality of fibula morphology, High, narrow palate, Aplastic clav... ORPHA:198
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Supernumerary ribs, Smooth philtrum, Oral cleft, Myelomeni... OMIM:193500
Hemochromatosis, Type 1
Azoospermia, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypog... OMIM:235200
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Long philtrum, Hiatus hernia, Genu valgum, Broad ribs, Joint laxity,... OMIM:304150
Schneckenbecken Dysplasia
Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hypoplastic scapulae, Hypopl... ORPHA:3144
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Scoliosis, Increased vertebral height, Camptodactyly of toe, Broad femoral metaphyses, Joint cont... OMIM:610474
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Spina bifida, Irregular ossification of hand bones, Odontogenic ... OMIM:109400
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide anterior fontanel, Hypop... OMIM:114290
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Kyphosis, Sagittal craniosynostosis, Short ri... OMIM:603116
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... ORPHA:140
Peters Plus Syndrome
Long philtrum, Short toe, Toe syndactyly, Widely spaced teeth, Intestinal fistula, Sacral dimple,... ORPHA:709
Osteoglophonic Dysplasia
Platyspondyly, Long philtrum, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad ... OMIM:166250
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Anisospondyly, Narrow mouth, Broad long bones, Hypoplastic ilia, Flexion con... ORPHA:1865
Cerebrofaciothoracic Dysplasia
Scoliosis, Wide mouth, Rib fusion, Hemivertebrae, Cleft upper lip, Cleft palate, Broad philtrum, ... ORPHA:1394
Schwartz-Jampel Syndrome
Scoliosis, Pursed lips, Wormian bones, Arthrogryposis multiplex congenita, Narrow mouth, Elbow di... ORPHA:800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Broad long bones, Bowing of the long bones, Adducted thumb, Short ribs, Short long... OMIM:224400
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Abnormality of the epiphysis of the femoral head, Hyp... OMIM:618641
Nail-Patella Syndrome
Scoliosis, Limited elbow extension, Spina bifida, Antecubital pterygium, Hypoplastic radial head,... OMIM:161200
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Abnormality of the metacarpal bones, Increased bone... ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Posterior scalloping of vertebral bodies, Thick lower lip vermilion, Metaphyseal i... OMIM:610442
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Cleft palate, Bifid uvula, Butterfl... OMIM:617660
Osteogenesis Imperfecta, Type I
Joint hypermobility, Wormian bones, Recurrent fractures, Osteopenia, Increased susceptibility to ... OMIM:166200
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Wormian bones, Fibular aplasia, Abnormal palate morphology, Sacral dimple, Tooth agene... ORPHA:1533
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Vomiting, Hypertrophic cardiomyopathy OMIM:212140
Genitopalatocardiac Syndrome
Scoliosis, Postaxial hand polydactyly, Downturned corners of mouth, Kyphosis, Non-midline cleft l... ORPHA:2075
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Thoracic kyphosis, Short sternum, Hamartoma of tongue, Abnormality of... ORPHA:2752
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Narrow mouth, Open mouth, Short phalanx of finger, A... ORPHA:508533
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Long philtrum, Abnormality of epiphysis morphology, Synostosis of joints, Natal to... ORPHA:50945
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, ... ORPHA:93357
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Joint laxity, Branchial cyst, Long toe, Spina bifida occulta, Short n... ORPHA:508488
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Joint ... ORPHA:3134
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Platyspondyly, Metaphyseal sclerosis, Short iliac bones, Joint swelling, Metaphyseal i... OMIM:607944
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Wide anterior fontanel, Kyphosis, Lumbar hyperlordosis, Hydrocephalus OMIM:616482
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Narrow mouth, Slender long bones with narrow diaphyses, Abnormali... ORPHA:536471
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spondylocarpotarsal Synostosis Syndrome