Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM and SH3 protein 1
Synonyms:
SH3P6,  Def-4

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 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
phenotypes
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
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral cleft lip, Short ... OMIM:601829
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Sprengel Deformity
Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, Rib segmentation ab... OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Cleft palate, Short neck, Scoliosis, Posterior rib fusion, Spina b... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Spina bifida occulta, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Nemaline Myopathy 9
High palate, Scoliosis, Arthrogryposis multiplex congenita, Cleft palate OMIM:615731
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... OMIM:183802
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Scoliosis, Spina bifida occulta, Abnormal epiphysis morphology, Abn... ORPHA:177
Tibial Torsion, Bilateral Medial
Scoliosis OMIM:188800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal ilium morphol... ORPHA:163665
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, Deep philtrum, Abn... ORPHA:2475
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Neuronal Intranuclear Inclusion Disease
Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:2289
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Cleft palate, Camptodactyly of finger, Short... ORPHA:2311
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Acrofacial Dysostosis, Catania Type
Short palm, Spina bifida occulta, Carious teeth OMIM:101805
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Thin vermilion border, Short philtrum, Short neck, Spina ... ORPHA:2983
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... OMIM:184255
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Pelvis-Shoulder Dysplasia
Short clavicles, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5th finger, Hypoplastic ili... OMIM:169550
Ethanolaminosis
Cardiomegaly OMIM:227150
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Wide mouth, Gingival overgrowth, Metaphyseal dysplasia,... ORPHA:3219
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Joint dislocation, Short ribs, Short ... OMIM:273750
Hypertrichosis, Congenital Generalized
Scoliosis OMIM:307150
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta, Bicoronal synostosis, Delayed closure of the anterior fontanelle... OMIM:618736
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Spondylocamptodactyly
Cervical platyspondyly, Scoliosis OMIM:600000
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Small hand, Oligodontia, Short neck, Scoliosis, Abnorma... ORPHA:1787
Isotretinoin Syndrome
Cleft palate, Sacral dimple, Spina bifida occulta ORPHA:2305
Becker Nevus Syndrome
Kyphosis, Rib fusion, Scoliosis, Abnormality of tibia morphology, Spina bifida occulta, Supernume... ORPHA:64755
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Osteopetrosi... ORPHA:2780
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Brachydactylous Dwarfism, Mseleni Type
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... ORPHA:2619
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology ORPHA:93304
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Everted lower lip verm... OMIM:617877
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Platyspond... OMIM:156510
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Downturne... ORPHA:1185
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplication, Hand polydactyly, Hip disloc... OMIM:223200
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip contractur... ORPHA:99642
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Craniosynostosis 6
Delayed cranial suture closure, Scoliosis, Spina bifida occulta, Craniosynostosis OMIM:616602
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Scoliosis, Li... ORPHA:376
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum OMIM:608361
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Rocker bottom foot, Joint di... OMIM:193700
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Cleft palate, Craniosynostosis, Flared iliac wing, Short 1st meta... ORPHA:949
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Cleft palate, Short long bone, Costal cart... OMIM:222600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... ORPHA:93359
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Cleft palate, Platyspondyly, Enlarged epiphyses, Premature osteoarthritis, ... OMIM:184840
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Genu valgum, Sag... OMIM:201000
Sprengel Deformity
Short neck, Abnormal shoulder morphology, Cleft palate ORPHA:3181
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... OMIM:271630
Metatropic Dysplasia
Kyphosis, Hydrocephalus, Joint stiffness, Coarse metaphyseal trabecularization, Halberd-shaped pe... ORPHA:2635
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Split foot, Tracheoesophageal fistula... ORPHA:2437
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Irre... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Cleft palate, Narrow greater sciatic notch, Club-shaped prox... OMIM:184250
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Slender finger, Cleft palate, Abnormal hip bone mor... ORPHA:916
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Osteogenesis Imperfecta, Type V
Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati... OMIM:610967
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Partington Syndrome
Macroorchidism ORPHA:94083
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... OMIM:259440
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... OMIM:619110
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Flared me... OMIM:601561
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Progressive Pseudorheumatoid Dysplasia
Joint swelling, Kyphoscoliosis, Joint stiffness, Coxa vara, Joint contracture of the hand, Enlarg... OMIM:208230
3Mc Syndrome
Limited pronation/supination of forearm, Craniosynostosis, Scoliosis, Spina bifida occulta, Hyper... ORPHA:293843
Larsen Syndrome
Cleft palate, Elbow dislocation, Cleft upper lip, Accessory carpal bones, Knee dislocation, Trach... OMIM:150250
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the vertebral c... ORPHA:294975
Split Cord Malformation Type I
Scoliosis ORPHA:1671
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Cleft palate, Reduced bone mineral density, Abnormal hip bone ... ORPHA:577
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... ORPHA:2631
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Cleft palate, Radial deviation of the 2nd finger... ORPHA:1388
Bruck Syndrome 1
Kyphosis, Hip contracture, Coxa vara, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli... OMIM:259450
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Abnormal digit morphology, Cleft palate, Spina bifida occulta OMIM:268850
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, C... ORPHA:1646
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Cleft pa... OMIM:256050
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation ORPHA:85174
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D... ORPHA:166011
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Hyp... OMIM:234250
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hyperflexibility, Spina bifida occulta, Joint hypermobility ORPHA:230839
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Osteoarthritis, Platyspondyly, Flattened metatarsal heads, Hip osteoa... OMIM:271600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Thin vermilion border, Short philtrum, Scoliosis, Microd... OMIM:617360
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... OMIM:313420
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, High palate, Abnormality of the tongue, Multiple pterygia, Rib fus... ORPHA:2990
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Clinodactyly of the 5th finger, Finger syndactyly, Small hand, Abnormality of the... ORPHA:1786
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... OMIM:608940
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Absent or... ORPHA:66637
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Knee dislocation, Scoliosis, Hammertoe, Hip dislocation, Hip dysplasia ORPHA:370943
Frontometaphyseal Dysplasia
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Limitation of knee mobility, Pr... ORPHA:1826
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... OMIM:618395
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption... ORPHA:71267
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Cleft palate, Broad ribs, Delayed closure of the anterior fontanelle,... OMIM:300373
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Coxa vara, Narro... OMIM:602557
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... ORPHA:3098
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Abn... ORPHA:429
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Coxa vara, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, D... OMIM:184252
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit... OMIM:218600
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Narrow mouth, Tibial bowing, Pursed lips, Flexion contracture, Abse... OMIM:245160
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Scoliosis, Finger clinodactyly, Br... OMIM:615923
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Osteoarthritis, Platyspondyly ORPHA:93283
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Butterfly vertebrae, Tracheoesophageal fistula, Spina bifida occulta, Fused cer... OMIM:619227
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar ... OMIM:601344
Distal Monosomy 10Q
High palate, Anal atresia, 2-3 toe cutaneous syndactyly, Lumbar hyperlordosis, Clinodactyly of th... ORPHA:96148
3Mc Syndrome 1
Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... OMIM:257920
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... OMIM:230650
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Wide distal femoral me... OMIM:619598
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... ORPHA:93351
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Rectal prolapse, Umbilical hernia, Scoliosis, Gingival overgrowth, Oli... OMIM:235510
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abnormal vertebral seg... ORPHA:2345
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Morquio Syndrome C
Platyspondyly OMIM:252300
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Thin vermilion border, Ar... OMIM:614856
Alagille Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Clinodactyly of the 5th finger, Sh... ORPHA:52
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Ovoid verteb... ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Hypoplastic acetabulae, Multicentric femoral head ossifica... OMIM:607326
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Cleft palate OMIM:221950
Fragile X Syndrome
Mitral valve prolapse, Gastroesophageal reflux, Macroorchidism ORPHA:908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Small hand, Platyspondyly, Short palm, Hypopl... ORPHA:85172
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Bruck Syndrome
Kyphosis, Joint stiffness, Recurrent fractures, Platyspondyly, Scoliosis, Wormian bones, Osteopor... ORPHA:2771
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Cleft palate, Fused thoracic vertebrae, Flexion contracture, Short neck, Scoliosis, Fused cervica... OMIM:618469
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Encephalocele, Vert... ORPHA:2911
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... OMIM:612350
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Platyspondyly, Genu valgum, Ab... ORPHA:250984
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... OMIM:215150
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft palate, Arachnodactyly, Thoracic kyphosis, Cleft lip, Long toe OMIM:300263
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clinodactyly of the 5th finger, Craniosynostosis, Spina bifida occulta, Anal stenosis, Rectovagin... OMIM:300707
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Horizontal sacrum, Twelfth rib hypoplasia, Sacral dimple, Abnormality of dental erup... OMIM:211910
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... ORPHA:1427
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Narrow greater sciatic notch, Platyspondyly, Scoliosis, Short femoral neck, Anterior r... OMIM:602271
Kuskokwim Syndrome
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bod... ORPHA:1149
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia, Scoliosis, Brachydactyly, Fused cervical vertebrae, Short middle phalanx of finger,... ORPHA:1436
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... OMIM:184260
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Platyspondyly, Carious teeth, Genu... OMIM:253010
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sci... ORPHA:168549
Dubowitz Syndrome
High palate, Wide mouth, Hydrocephalus, Craniosynostosis, Abnormality of the dentition, Delayed e... ORPHA:235
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebr... OMIM:253000
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Popliteal pterygium, Bifid uvula, Spina bifida occulta, Lower lip ... OMIM:119500
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Osteopenia, Fractures of t... ORPHA:319195
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, Osteoporosis, Carious ... OMIM:126550
X-Linked Intellectual Disability, Abidi Type
Scoliosis, Cleft palate, Non-midline cleft lip ORPHA:85273
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Low back pain, M... OMIM:122600
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... ORPHA:157965
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, G... ORPHA:94068
Duane-Radial Ray Syndrome
Anal atresia, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Scolio... OMIM:607323
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... OMIM:251450
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Vertebral wedging OMIM:301014
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scol... ORPHA:1248
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Scoliosis, Fused cerv... OMIM:214300
Diastrophic Dysplasia
Cleft palate, Symphalangism affecting the phalanges of the hand, Ulnar deviation of finger, Abnor... ORPHA:628
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Townes-Brocks Syndrome 2
Anal atresia, Rectovaginal fistula, Scoliosis, Spina bifida occulta OMIM:617466
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Anauxetic Dysplasia 1
Platyspondyly, Short neck, Microdontia, Small epiphyses, Cervical subluxation, Cervical cord comp... OMIM:607095
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Coxa vara, Lumbar hyperlordosis, Cleft palate, Atlantoaxial instability, Delayed calcan... OMIM:183900
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Spinal cord com... OMIM:113500
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Decreased cranial base ossification, Disc-like vertebral bodies, ... OMIM:151210
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... ORPHA:488434
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Wide mouth, Joint dislocation, Reduced bone mineral density, Abn... ORPHA:582
Thanatophoric Dysplasia, Type Ii
Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal irregularity, ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Knee dislocation, Cleft palate, Horizontal sacrum, Tombstone-shaped... OMIM:108721
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Craniosynostosis, Postaxial polydactyly, Oligodontia,... OMIM:616580
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... OMIM:244600
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Short metatarsal,... OMIM:601438
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia, Amelogenesis i... OMIM:601216
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Coxa vara, Flexion contracture, Flared iliac wing, Thin ribs, Metaphyseal widening, ... OMIM:300232
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Abnormal cartilage matrix, Cleft palate, Sh... ORPHA:2347
Kniest Dysplasia
Enlarged joints, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, Umbilical hernia, D... OMIM:156550
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Kyphoscoliosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, L... OMIM:615349
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Platyspondyly, Short neck, Downturned corners of mouth, Abnormal rib morphology, ... ORPHA:93267
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, S... OMIM:619638
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, Br... OMIM:618961
Odontochondrodysplasia
Dentinogenesis imperfecta, Cone-shaped epiphysis, Platyspondyly, Scoliosis, Delayed eruption of t... ORPHA:166272
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Platyspondyly, Short neck, Abnormal... ORPHA:485
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Narrow vertebral i... OMIM:269250
Duane Retraction Syndrome
Cleft palate, Everted lower lip vermilion, Abnormal vertebral segmentation and fusion, Hypoplasia... ORPHA:233
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Overlapping toe, Cleft palate, Scoliosis, Open mouth OMIM:620021
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Incontinentia Pigmenti
Absent hand, Supernumerary ribs, Hypodontia, Finger syndactyly, Camptodactyly of finger, Scoliosi... ORPHA:464
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Platyspondyly, Scoliosis, Wormian bones, Oste... OMIM:619131
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Cleft palate, Encephalocele, Split foot, Short umbilical cord, A... ORPHA:2369
Microspherophakia-Metaphyseal Dysplasia
Spinal stenosis with reduced interpedicular distance, Metaphyseal dysplasia, Irregular epiphyses,... OMIM:157151
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... ORPHA:239
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx ... OMIM:309620
Loeys-Dietz Syndrome 6
High palate, Intervertebral disc degeneration, Arachnodactyly, Scoliosis, Hip osteoarthritis, Kne... OMIM:619656
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Preaxial foot polydactyly, Coxa vara, Aplasia/Hypoplas... ORPHA:1988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... OMIM:300863
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca... OMIM:609162
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Femoral retroversion... OMIM:610915
Ollier Disease
Joint stiffness, Platyspondyly, Abnormal cartilage morphology, Osteolysis, Abnormal metaphysis mo... ORPHA:296
Zimmermann-Laband Syndrome 1
High palate, Wide mouth, Gingival overgrowth, Short distal phalanx of finger, Hyperextensibility ... OMIM:135500
Arthrogryposis, Distal, Type 3
High palate, Overlapping toe, Kyphoscoliosis, Lumbar hyperlordosis, Decreased hip abduction, Clef... OMIM:114300
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... ORPHA:8
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Delayed eruption of teeth, Abnor... ORPHA:263463
Sheldon-Hall Syndrome
Vertebral segmentation defect, High palate, Joint stiffness, Adducted thumb, Abnormal hip bone mo... ORPHA:1147
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Cleft palate, Flared metaphysis, Coronal cleft vertebrae, Ca... OMIM:215100
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, S... OMIM:610968
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Open bite, Platyspondyly, Scoliosis, Long philtrum, Diastema, Hyperl... OMIM:619698
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, I... OMIM:226980
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Spondylolisthesis, Cleft palate, Pierre-R... OMIM:108300
Bruck Syndrome 2
Flexion contracture, Osteopenia, Femoral bowing, Platyspondyly, Wormian bones, Elbow flexion cont... OMIM:609220
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Unilateral cleft palate, Unilateral cleft lip, Joint hypermobility, Supernu... OMIM:619122
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Tooth agenesis, Multiple rib fractures, Osteopenia, Decreased calvarial ossi... OMIM:616229
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hypodontia, Cleft palate,... ORPHA:2916
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Radial... OMIM:615777
Doors Syndrome
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Hemivertebrae, Abn... ORPHA:79500
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Short ne... ORPHA:93315
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... ORPHA:457395
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Craniofacial hyperostosis, Hypoplastic verteb... ORPHA:1782
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Cantu Syndrome
Thick upper lip vermilion, Gingival overgrowth, Broad first metatarsal, Metaphyseal widening, Pla... OMIM:239850
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture OMIM:616507
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Ge... OMIM:223800
Fibrochondrogenesis 1
Cleft palate, Platyspondyly, Short neck, Dumbbell-shaped long bone, Posterior rib cupping, Short ... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Platyspondyly, Short neck, Short f... OMIM:616723
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Platyspondyly, Short neck, Congenital hip dislocation, Umbilical hernia... OMIM:255800
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Van Esch-O'Driscoll Syndrome
Wide mouth, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Scoliosis, Bifid uvula, Sp... OMIM:301030
Kbg Syndrome
Cleft palate, Oligodontia, Short neck, Scoliosis, Macrodontia, Long philtrum, Cutaneous syndactyl... ORPHA:2332
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Hydrocephalus, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynosto... OMIM:616294
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Decreased response to... ORPHA:91349
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Oligodo... OMIM:618853
Leopard Syndrome 1
Kyphoscoliosis, Cleft palate, Short neck, Spina bifida occulta, Limited elbow movement, Cubitus v... OMIM:151100
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Platyspondyly, Hypoplasia of t... ORPHA:85166
Focal Dermal Hypoplasia
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... OMIM:305600
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Upper limb undergrowth, Genu ... ORPHA:93307
Camptodactyly Syndrome, Guadalajara, Type Iii
Joint contracture of the hand, Short neck, Spina bifida occulta, Camptodactyly, Absent phalangeal... OMIM:611929
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... OMIM:614524
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Recurrent fractures, Dentinogenesis imperfecta, Tibial bowing, ... OMIM:259420
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Short neck, Pl... OMIM:615222
Hall-Riggs Syndrome
Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Delayed eruption of teeth, Brachydactyly, ... ORPHA:2107
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Platyspondyly, Short neck, Small epiphyses, Short long bone, Thick lower lip vermilio... OMIM:611717
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Flexion contracture, Cleft pal... OMIM:601560
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Abnormal form of the vertebral bodies, Non-midline... ORPHA:3429
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Pycnodysostosis
Narrow palate, Spondylolisthesis, Persistence of primary teeth, Hypodontia, Increased bone minera... OMIM:265800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Cleft palate, Abnormality of lowe... ORPHA:1166
Achondrogenesis, Type Ii
Cleft palate, Short ribs, Short tubular bones of the hand, Absent vertebral body mineralization, ... OMIM:200610
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Hydrocephalus, Thin ribs, Short philtrum, Platyspondyly, Metaphyseal cupping of metac... ORPHA:163966
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Prominent fingertip pads, Broad hallux, Duplication of phalanx of hall... OMIM:180849
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral segmentation and fusion, Short ... OMIM:118100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Sclerosis of skull base, Osteopenia, Flared metaphysis, Scol... OMIM:269300
Orofaciodigital Syndrome Iii
Kyphosis, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Postaxial h... OMIM:258850
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Cleft palate, Prominent fingertip pads, Short philtrum, D... OMIM:135900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Periodontitis, Recurr... OMIM:231070
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Absent ... OMIM:166210
Larsen Syndrome
Vertebral segmentation defect, Large joint dislocations, Laryngotracheomalacia, Short distal phal... ORPHA:503
Arthrogryposis, Distal, Type 5D
Cleft palate, Adducted thumb, Short neck, Scoliosis, Hyperlordosis, Camptodactyly, Furrowed tongu... OMIM:615065
Lowry-Wood Syndrome
Joint stiffness, Dislocated radial head, Epiphyseal dysplasia, Coxa vara, Platyspondyly, Irregula... ORPHA:1824
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Short ribs, Intestinal malrotation, Postaxial p... OMIM:617866
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula, Abnormal vertebral morphology, Finger syndactyly, Toe sy... ORPHA:261272
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short ne... OMIM:271520
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Deviation of finger, Bilateral cleft lip and palate,... ORPHA:1104
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Combined Oxidative Phosphorylation Deficiency 47
Cone-shaped epiphyses of the distal phalanges of the hand, Platyspondyly, Short neck, Long philtr... OMIM:618958
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Thin ri... OMIM:312150
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Osteogenesis Imperfecta, Type Iv
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Biconcave... OMIM:166220
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Scoliosis OMIM:604919
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short... OMIM:271640
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral col... OMIM:239800
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Cl... ORPHA:3320
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Flexion contracture, Short ribs, Osteopenia, Short femu... OMIM:616897
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Short neck, Polydactyly, Postaxial hand polydactyly, Encephalocele OMIM:613885
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... OMIM:311300
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Spondylolisthesis,... OMIM:119600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Mitral valve prolapse, Macroorchidism OMIM:618874
Postaxial Acrofacial Dysostosis
Cleft upper lip, Cleft palate, Supernumerary vertebrae, Hypoplasia of the radius, Congenital hip ... OMIM:263750
Holzgreve Syndrome
Joint stiffness, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormally ossified vertebrae, A... ORPHA:2167
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly, Shortening of all metacarpals, Wormian bones, Shortening o... OMIM:601356
CantĂș Syndrome
Short distal phalanx of finger, Wide mouth, Broad hallux phalanx, Platyspondyly, Short neck, Long... ORPHA:1517
Thanatophoric Dysplasia, Type I
Wide-cupped costochondral junctions, Hydrocephalus, Metaphyseal irregularity, Small abnormally fo... OMIM:187600
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate, Short neck, Cervical ribs, Abnormality of the odontoi... OMIM:609654
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, Joi... OMIM:230600
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Narrow mouth, Hypoplastic vertebral bodies, Wide anterior fontanel, Cle... OMIM:245190
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Dislocated radial head, Hydrocephalus, Lumbar hyperlordosis, Fift... ORPHA:2839
Hypophosphatasia, Infantile
Bowing of the legs, Widely patent fontanelles and sutures, Metaphyseal cupping, Craniosynostosis,... OMIM:241500
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... OMIM:252100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Macroglossia, Spina bifida occulta, Camptodactyly, Abnormal thumb mor... ORPHA:500095
Cole-Carpenter Syndrome 1
Recurrent fractures, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosi... OMIM:112240
Attrv30M Amyloidosis
Diarrhea, Constipation, Cardiomyopathy, Cardiomegaly ORPHA:85447
Atelosteogenesis Type I
Malrotation of colon, Joint dislocation, Cleft palate, Abnormal ossification involving the femora... ORPHA:1190
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scolio... OMIM:613848
Fibrochondrogenesis
Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Short ne... ORPHA:2021
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Spondylo-Ocular Syndrome
Thin vermilion border, Platyspondyly, Short neck, Long philtrum, Osteoporosis, Thoracic kyphosis,... ORPHA:85194
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Short humerus, Sh... OMIM:610319
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Noonan Syndrome With Multiple Lentigines
Scoliosis, Spina bifida occulta ORPHA:500
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum, Umbi... OMIM:253220
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Thin ribs, Abnormal cerv... OMIM:253290
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Metaphyseal widening, Platyspondyly, Short neck, Irregular epiphyses, Brach... OMIM:612813
Trisomy 8Q
High palate, Myelomeningocele, Joint stiffness, Bone cyst, Cleft palate, Everted lower lip vermil... ORPHA:1752
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Atrial septal defect, Macroorchidism OMIM:309520
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Umbilical hernia, Prominent ... OMIM:619636
Cousin Syndrome
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Clinodactyly of the 5th fing... OMIM:260660
Dystonia, Juvenile-Onset
Cleft upper lip, Hypoplastic scapulae, Kyphoscoliosis, Cleft palate OMIM:607371
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Broad phalanx, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib cupp... OMIM:271665
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... OMIM:186500
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Gastroesophageal reflux, O... ORPHA:562
Kyphomelic Dysplasia
Cleft upper lip, Tibial bowing, Radial bowing, Short metacarpal, Cleft palate, Short femur, Undul... OMIM:211350
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Cleft palate, Abnormally ossified vertebrae, Apl... ORPHA:1512
Thanatophoric Dysplasia
Kyphosis, Hydrocephalus, Joint stiffness, Hip dysplasia, Platyspondyly, Brachydactyly, Abnormal i... ORPHA:2655
Larsen-Like Syndrome
Dental malocclusion, Kyphoscoliosis, Wide anterior fontanel, Joint dislocation, Clinodactyly of t... OMIM:608545
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip d... OMIM:304120
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Kyphoscoliosis, Lumbar hyperlordosis, Delayed os... OMIM:271510
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... OMIM:616331
Williams Syndrome
Wide mouth, Tracheoesophageal fistula, Osteopenia, Down-sloping shoulders, Abnormality of the ank... ORPHA:904
Thanatophoric Dysplasia Type 2
Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly, Joint hyperflexibility, Brachydactyly,... ORPHA:93274
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Scolios... OMIM:619184
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Spondylolisthesis, Cleft palate, Osteoarthritis of the small jo... ORPHA:284984
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Kyphoscoliosis, Dislocated radial head, Delayed ossification of carpal bones, Epiph... OMIM:617425
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Cleft palate... OMIM:224400
Trisomy 20P
Abnormality of the dentition, Short philtrum, Platyspondyly, Short neck, Microdontia, Umbilical h... ORPHA:261318
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... OMIM:618150
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Platyspondyly, Irregular proxim... OMIM:154780
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Hypoplasia of the ulna, Short long bone, Cle... OMIM:613091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Hydrocephalus, Cleft palate, Flexion contracture, Short long bo... ORPHA:1865
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Constipation, Increased circulating prolactin concen... ORPHA:90674
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Vomiting, Cardiomegaly OMIM:600649
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
3Q29 Microdeletion Syndrome
High palate, Clinodactyly of the 5th finger, Everted lower lip vermilion, Abnormality of the dent... ORPHA:65286
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Otopalatodigital Syndrome Type 2
Hydrocephalus, Cleft palate, Bowing of the long bones, Encephalocele, Elbow dislocation, Carpal s... ORPHA:90652
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Recurrent fractures, Small abnormally formed scapul... ORPHA:140
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Cleft palate, Lip pit, Fibrous syngnathia, Scoliosis, Popliteal pterygium, Abnor... ORPHA:1300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... OMIM:619269
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Upper limb undergrowth, Dumbbell-shaped femur, Genu valg... ORPHA:56304
Thanatophoric Dysplasia Type 1
Kyphosis, Hydrocephalus, Wide anterior fontanel, Joint stiffness, Short femur, Femoral bowing, Hy... ORPHA:1860
Enlarged Parietal Foramina
Myelomeningocele, Short clavicles, Cleft palate, Craniosynostosis, Cleft lip, Broad thumb, Occipi... ORPHA:60015
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Acetabular spurs,... ORPHA:1505
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary vertebrae, Oral cleft, Supernumerary ribs, Spina bifida, Smooth p... OMIM:193500
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Myhre Syndrome
Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Thin vermilion border, Platyspondy... ORPHA:2588
Peters Plus Syndrome
Cleft upper lip, Wide mouth, Anal atresia, Hydrocephalus, Clinodactyly of the 5th finger, Short t... ORPHA:709
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
High palate, Increased vertebral height, Joint contracture of the hand, Arachnodactyly, Camptodac... OMIM:610474
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensi... OMIM:245600
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Cardi... OMIM:235200
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Clubbing, Multinuclea... OMIM:108720
Basal Cell Nevus Syndrome
Cleft upper lip, Bifid ribs, Kyphoscoliosis, Hydrocephalus, Short distal phalanx of the thumb, Su... OMIM:109400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Hydrocephalus, Osteopetrosis, Metaphyseal widening, Platyspondyly OMIM:618476
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Slender long bones with narrow diaphyses... ORPHA:536467
Nail-Patella Syndrome
Cleft upper lip, Hypoplasia of first ribs, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5... OMIM:161200
Orofaciodigital Syndrome Type 3
Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, ... ORPHA:2752
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Kyphoscoliosis, Long hallux, High, narrow palate, Cleft palate, Hyperextensi... OMIM:309583
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Cleft palate, Short ribs, Increased fibular diameter, Hypoplastic i... ORPHA:3144
Cdags Syndrome
Kyphosis, Anal atresia, Short clavicles, Cleft palate, Short ribs, Coronal craniosynostosis, Dela... OMIM:603116
Knobloch Syndrome 1
Occipital meningocele, Spina bifida occulta, Pyloric stenosis, Joint hypermobility, Occipital enc... OMIM:267750
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Wide mouth, Cleft upper lip, Rib fusion, Bifid ribs, Cleft palate,... ORPHA:1394
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Wide anterior fontanel, Cleft palate, Osteopenia, High iliac wing, Scoli... OMIM:607812
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Cleft palate, Trac... ORPHA:1393
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Hydrocephalus, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges o... ORPHA:2658
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Frontorhiny
Lumbar hyperlordosis, Basal encephalocele, Cleft palate, Camptodactyly of finger, Bifid tongue, S... ORPHA:391474
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Vomiting, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:212140
Oculoauricular Syndrome
Spina bifida occulta, Short mandibular rami OMIM:612109
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... OMIM:114290
Tibial Hemimelia
Cleft palate, Hemivertebrae, Radial club hand, Aplasia of the 2nd metacarpal, Absent hallux, Poly... ORPHA:93322
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, 11 pairs of ribs, ... OMIM:250220
Opsismodysplasia
Short palm, Hypoplastic vertebral bodies, Metaphyseal cupping, Short metacarpal, Short neck, Scol... OMIM:258480
Scarf Syndrome
Short sternum, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the vertebral bodies... ORPHA:3134
Occipital Horn Syndrome
High palate, Kyphosis, Short clavicles, Hiatus hernia, Coxa valga, Platyspondyly, Long philtrum, ... OMIM:304150
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Scoliosis, Bifid uvul... OMIM:174300
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Tetraph... OMIM:215140
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Platyspondyly, Abnormality of the pubic bone, Humerus varus, Down-slop... ORPHA:198
8Q24.3 Microdeletion Syndrome
Abnormal cricoid cartilage morphology, Short neck, Congenital hip dislocation, Finger clinodactyl... ORPHA:508488
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Genitopalatocardiac Syndrome
Kyphosis, Hydrocephalus, Cleft palate, Scoliosis, Brachydactyly, Downturned corners of mouth, Pos... ORPHA:2075
Congenital Toxoplasmosis
Diarrhea, Hepatomegaly, Cardiomegaly ORPHA:858
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypopl... OMIM:600920
3Mc Syndrome 2
Cleft upper lip, Cleft palate, Craniosynostosis, Abnormality of the vertebral column, Limited elb... OMIM:265050
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Abnormality of the dentition, Contracture of the proximal interphalangeal joint of the 3rd finger... OMIM:612394
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Wide capital f... OMIM:147891
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... OMIM:618641
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Short neck, Block vertebrae, Vertebral segmentation defect, Carpal synostosis, Epip... OMIM:272460
Osteoglophonic Dysplasia
High palate, Broad metacarpals, Eruption failure, Broad phalanx, Craniosynostosis, Platyspondyly,... OMIM:166250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Osteogenesis Imperfecta
Abnormality of femur morphology, Hydrocephalus, Abnormality of the dentition, Osteopenia, Femoral... ORPHA:666
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Hydrocephalus, Platyspondyly OMIM:616482
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular vertebral endplates, Metaphyseal irregularity, Flared metaphysis, Platyspondyly, Short ... OMIM:610442
Coffin-Lowry Syndrome
High palate, Kyphosis, Dental malocclusion, Narrow palate, Drumstick terminal phalanges, Hypodont... OMIM:303600
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... ORPHA:800
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, Sandal gap, Bowing of the long bones, Shor... ORPHA:1106
Neu-Laxova Syndrome 2
High palate, Cleft palate, Short neck, Scoliosis, Rocker bottom foot, Spina bifida, Finger syndac... OMIM:616038
49,Xxxyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... ORPHA:261534
Osteogenesis Imperfecta, Type I
Recurrent fractures, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Osteopenia, Femora... OMIM:166200
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Pentalogy Of Cantrell
Hydrocephalus, Cleft palate, Scoliosis, Anencephaly, Abnormality of tibia morphology, Oral cleft,... ORPHA:1335
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Kyphosis, Wide mouth, Anal atresia, Abnormal palate morphology, Wide anterior fonta... ORPHA:85199
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Cleft palate, Craniosynostosis, Osteopenia, Radioulnar synostosis, Phalangeal dislocation, Bowing... OMIM:130070
Mosaic Trisomy 20