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
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta OMIM:184300
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Sprengel Deformity
Rib segmentation abnormalities, Hemivertebrae, Spina bifida occulta, Cervical segmentation defect... OMIM:184400
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, Hyperlordosis, Abnormal ri... ORPHA:1797
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Limitation of joint mobility, Slender long bone, Sacrococcygeal pilonidal abnormality, Hypoplasti... ORPHA:2840
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphy... ORPHA:177
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Tibial Torsion, Bilateral Medial
Scoliosis OMIM:188800
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver... OMIM:609223
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal palate morphology, Joint hypermobilit... ORPHA:2475
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Umbilical hern... ORPHA:2311
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Decreased skull ossification, Abnorm... ORPHA:1452
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... OMIM:271530
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Lumba... OMIM:169550
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Genu valgum, Short neck, Thin vermilion border, Spina bifida occulta... ORPHA:2983
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... OMIM:609052
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Fountain Syndrome
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... ORPHA:3219
Ethanolaminosis
Cardiomegaly OMIM:227150
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... OMIM:184255
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Three M Syndrome 1
Short 5th finger, Joint dislocation, Slender long bone, Long philtrum, Thick lower lip vermilion,... OMIM:273750
Hypertrichosis, Congenital Generalized, 2
Scoliosis OMIM:307150
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Abnormal form of the vertebral bodies, Finger syndactyly, Unilat... ORPHA:1787
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Vertebral... OMIM:613686
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal mor... ORPHA:3104
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Short toe, Sandal gap, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate, Sacral dimple ORPHA:2305
Becker Nevus Syndrome
Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... OMIM:617974
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Sp... OMIM:618736
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m... ORPHA:2501
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Acrofacial Dysostosis, Catania Type
Carious teeth, Brachydactyly, Short palm, Spina bifida occulta, Cleft palate OMIM:101805
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu... ORPHA:85198
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Slender long bone, Downturned corners of mouth, Joint hypermobility, Cubitus val... ORPHA:1185
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Arthrogryposis multiplex congenita, Overlapping fing... OMIM:618291
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... OMIM:156510
Craniosynostosis 6
Right unilambdoid synostosis, Delayed cranial suture closure, Bicoronal synostosis, Craniosynosto... OMIM:616602
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Epiphyseal dysplasia, Premature osteoarthritis, Enlarged epiphyses, Cleft palate, ... OMIM:184840
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Flattened femoral head, Hip osteoarthritis, Hump-shaped mound of bone in central a... ORPHA:99642
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Sacral meningocele, Hand polydactyly, Hip dislocation, Cleft p... OMIM:223200
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... ORPHA:949
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Short neck, Flexion co... OMIM:193700
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Persistence of primary teeth, Genu valgu... OMIM:265900
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Sprengel Deformity
Abnormal shoulder morphology, Short neck, Cleft palate ORPHA:3181
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck, Cleft palate, Thin upper lip vermilion ORPHA:2015
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... OMIM:610967
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... ORPHA:40
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, T... ORPHA:2437
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art... ORPHA:1856
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... OMIM:222600
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu... ORPHA:2635
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect ORPHA:2477
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... OMIM:259440
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Partington Syndrome
Macroorchidism ORPHA:94083
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... OMIM:184250
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ... OMIM:609616
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Polydactyly, Upper limb phocom... ORPHA:294975
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J... ORPHA:577
3Mc Syndrome
Caudal appendage, Downturned corners of mouth, Umbilical hernia, Radioulnar synostosis, Prominent... ORPHA:293843
Split Cord Malformation Type I
Scoliosis ORPHA:1671
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Vertebral wedging, Pteryg... OMIM:259450
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Short metacarpal,... OMIM:150250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Cleft upper lip, Cleft palate, Abnormal digit morphology OMIM:268850
Pseudodiastrophic Dysplasia
Platyspondyly, Phalangeal dislocation, Scoliosis, Elbow dislocation ORPHA:85174
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Hall-Riggs Syndrome
Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Bra... OMIM:234250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi... ORPHA:2370
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, High palate, Scoliosis, Cleft palate OMIM:615731
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, Short neck, Narrow... ORPHA:66637
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Decrease... ORPHA:1426
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Hip contracture, Flattened epiphysis, High palate, Advanced ossificat... OMIM:618363
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Finger syndactyly, Long ph... ORPHA:2990
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp... OMIM:271600
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Narrow mouth, Short lingual... OMIM:617360
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... OMIM:612847
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteo... ORPHA:71267
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee flexion contracture, ... OMIM:313420
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Joint hypermobility ORPHA:230839
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Arachnodactyly, Anal atresia, High p... OMIM:300373
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper... OMIM:620269
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... ORPHA:429
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Abnormal form of the vertebral bodies, Abnormal epiphys... ORPHA:3098
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, ... OMIM:619227
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor... ORPHA:96148
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Lumbar hyperlordosi... OMIM:608728
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... OMIM:613330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis OMIM:612913
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Osteoarthritis ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mob... ORPHA:93351
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypop... OMIM:619598
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acetabular roof, O... ORPHA:163649
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fi... ORPHA:52
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o... ORPHA:93316
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis... OMIM:601344
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... ORPHA:2771
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Diaphyseal ... OMIM:151050
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Smal... OMIM:602111
Dental Anomalies And Short Stature
Platyspondyly, Widely spaced teeth, Herniation of intervertebral nuclei, Intervertebral space nar... OMIM:601216
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... OMIM:620639
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
3Mc Syndrome 1
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Caudal append... OMIM:257920
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Sho... OMIM:602557
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Proximal femoral metaphyseal irregularity, Narrow greater sciatic notch, Anterior ... OMIM:602271
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Autosomal Recessive Stickler Syndrome
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Joint hypermobil... ORPHA:250984
Poland Syndrome
Small hand, Finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb, Short neck, Abnorm... ORPHA:2911
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability... OMIM:607326
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Arachnodactyly, Long toe, Cleft palate, Thoracic kyphosis OMIM:300263
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of th... ORPHA:235
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C... OMIM:112350
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r... ORPHA:94068
X-Linked Intellectual Disability, Abidi Type
Scoliosis, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... ORPHA:1436
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... ORPHA:628
Fragile X Syndrome
Macroorchidism, Gastroesophageal reflux, Mitral valve prolapse ORPHA:908
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc... ORPHA:90650
Duane-Radial Ray Syndrome
Anal stenosis, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly,... OMIM:607323
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Atelosteogenesis, Type Iii
Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Elbow dislocat... OMIM:108721
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Open bite, Patchy distortion of vertebrae, Microd... ORPHA:1248
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra... OMIM:264180
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Abnormal dental mor... ORPHA:319195
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut... OMIM:119500
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Osteopenia, Broad femoral neck, Abnormal metaphysis morphology, Flat capital femor... ORPHA:157965
Stickler Syndrome Type 1
Platyspondyly, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morphol... ORPHA:90653
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary ribs, Syringomyelia, ... OMIM:122600
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Scoliosis, Recurrent frac... OMIM:126550
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv... OMIM:214300
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hip dislocation, Hypoplasia of the odontoid process, Atlantoa... OMIM:183900
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met... OMIM:113500
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S... OMIM:607095
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Joint ... ORPHA:582
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Short neck, Flattened e... OMIM:251450
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly ... OMIM:244600
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed erup... ORPHA:166272
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Narrow mouth, Pate... OMIM:218600
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Bowing of the arm, Biconcave vertebral ... OMIM:301014
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis mo... ORPHA:93267
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Wormian b... OMIM:619638
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal,... OMIM:601438
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal ... ORPHA:488434
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Short ribs, ... OMIM:269250
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Arthrogryposis multiplex congenita, Camptodactyly of fin... OMIM:114300
Townes-Brocks Syndrome 2
Spina bifida occulta, Anal atresia, Rectovaginal fistula, Scoliosis OMIM:617466
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Open mouth, High palate, Scoliosis, Cleft palate OMIM:620021
Dysosteosclerosis
Natal tooth, Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, ... OMIM:224300
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbil... ORPHA:464
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... ORPHA:2347
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Sho... OMIM:618961
Limb Body Wall Complex
Progressive congenital scoliosis, Cleft lip, Abnormality of the vertebral column, Broad hallux, M... ORPHA:2369
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Joint hypermobility, Wormian bones, Coxa vara, Osteoporosis, Sc... OMIM:619131
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost... OMIM:184095
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... OMIM:610915
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Zimmermann-Laband Syndrome 1
Short distal phalanx of finger, Downturned corners of mouth, Delayed eruption of teeth, Umbilical... OMIM:135500
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Ovoid ver... OMIM:253010
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Submucous cleft hard palate, Joint hypermobility, Supernumerary ribs, Unila... OMIM:619122
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Flexion contracture, ... OMIM:609162
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ... OMIM:105650
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnorma... ORPHA:296
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Cupped ribs, Hypoplastic pubic ... OMIM:614524
Stickler Syndrome, Type Iv
Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora... OMIM:614134
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Horizontal ribs, Short ribs, Metaphyseal widening, Na... OMIM:187760
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Rhizomelic Chondrodysplasia Punctata, Type 1
Flared metaphysis, Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, ... OMIM:215100
Stickler Syndrome, Type I
Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, J... OMIM:108300
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Umbilica... OMIM:614856
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Femoral bowing, Increased suscep... OMIM:609220
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Chst3-Related Skeletal Dysplasia
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irregular epiphy... ORPHA:263463
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Scoliosis, Kyphosis, Cleft palate, Prominent metopic ridge ORPHA:85317
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb... ORPHA:233
Mucopolysaccharidosis, Type X
Platyspondyly, Long philtrum, Irregular acetabular roof, Open bite, Broad ribs, Diastema, Genu va... OMIM:619698
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Short middle phalanx of... OMIM:309620
Cole-Carpenter Syndrome 2
Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis i... OMIM:616294
Geroderma Osteodysplastica
Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr... ORPHA:2078
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... OMIM:615777
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... OMIM:615222
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Tooth agenesis, Decreased calvarial ossification, Bowing of the long b... OMIM:616229
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental e... ORPHA:2916
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Cantu Syndrome
Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Long philtrum, Umbilical h... OMIM:239850
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Bilateral cleft palate, Vertebral segmentation defect, Spina ... ORPHA:1104
Doors Syndrome
Short lingual frenulum, Open mouth, Lumbar scoliosis, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:79500
Anauxetic Dysplasia 3
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finge... OMIM:618853
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Bowing of the long bon... OMIM:255800
Kbg Syndrome
Widely-spaced maxillary central incisors, Finger clinodactyly, Cervical ribs, Persistent open ant... ORPHA:2332
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Clinodactyly of the 5th finger, Wide mouth, Tracheoesop... OMIM:301030
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Anterior beaking of lumbar vertebrae, S... OMIM:230650
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Joint stiffness, Abnormal intervertebral disk morphology, Osteoarthritis ORPHA:1345
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, 3-5 toe syndactyly, Thin uppe... OMIM:300707
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... OMIM:610968
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Tongue atrophy, Hypermobility of distal interphalangeal joints, Elbow... OMIM:615065
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Postaxial poly... OMIM:614815
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Flared metaphysis, Short ribs,... OMIM:187601
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypopla... ORPHA:85166
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr... ORPHA:93307
Camptodactyly Syndrome, Guadalajara, Type Iii
Joint contracture of the hand, Short neck, Camptodactyly, Spina bifida occulta, Absent phalangeal... OMIM:611929
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Abnormal hip bone morphology, Joint stiffness, Abnormal lower lip morphology, Ver... ORPHA:1166
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Vomiting, Hypopituitarism, Decreased resp... ORPHA:91349
Osteogenesis Imperfecta, Type Iii
Thin ribs, Wide anterior fontanel, Dentinogenesis imperfecta, Slender long bone, Recurrent fractu... OMIM:259420
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Overlapping toe, ... OMIM:616723
Focal Dermal Hypoplasia
Toe syndactyly, Foot polydactyly, Short metacarpal, Myelomeningocele, Oligodontia, Hypodontia, Br... OMIM:305600
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of te... ORPHA:2107
Leopard Syndrome 1
Limited elbow movement, Missing ribs, Kyphoscoliosis, Short neck, Cubitus valgus, Spina bifida oc... OMIM:151100
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Short 5th finger, Tessier cleft, Abnormality of the vertebral colu... OMIM:239800
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco... OMIM:616507
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing... OMIM:166210
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphol... OMIM:118100
Pycnodysostosis
Aplastic clavicle, Spondylolysis, Carious teeth, Narrow palate, Persistent open anterior fontanel... OMIM:265800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplas... ORPHA:90790
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Osteopenia, Periodontitis, Hyperextensibility of the... OMIM:231070
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno... OMIM:615349
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Narrow mouth, Patellar dislo... OMIM:180849
Coffin-Siris Syndrome 1
Aplasia/Hypoplasia of the patella, High palate, Dislocated radial head, Short distal phalanx of t... OMIM:135900
Lowry-Wood Syndrome
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular ... ORPHA:1824
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Clef... ORPHA:261272
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... OMIM:271700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Disc-lik... OMIM:151210
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Intestinal malrotation, Ul... OMIM:617866
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Hi... OMIM:620662
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Microdontia, Short sternum, Postaxial ha... OMIM:258850
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Increased susceptibility to fracture... OMIM:312150
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr... OMIM:166220
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia... OMIM:271640
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Toe syndactyly, Long philtrum, Cone-shaped epiphyses of the distal phalanges of th... OMIM:618958
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, Joint hyperm... OMIM:612813
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow... OMIM:187600
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Orbital craniosynostosis, Commun... OMIM:112240
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular apla... ORPHA:3320
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, Short neck, High palate, Cl... OMIM:609654
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Abnormal form of the ver... ORPHA:2839
Atelosteogenesis Type I
Platyspondyly, Joint dislocation, Absent or minimally ossified vertebral bodies, Abnormal ossific... ORPHA:1190
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, S... OMIM:616897
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,... ORPHA:2167
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Pyloric stenosis, Dentinogenesis imperfecta, Osteopenia, Broad ribs, Ge... OMIM:613848
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Shortening of all metacarpa... OMIM:601356
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Dysplastic sacrum, Wide distal femoral meta... OMIM:613320
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Pyloric stenosis, Conical tooth, Short thumb, Supernumerary vertebrae... OMIM:263750
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation ORPHA:85447
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... OMIM:178110
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
CantĂș Syndrome
Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Long philtrum, Umbilical hernia... ORPHA:1517
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Diaphyseal undertubulation, Patella... OMIM:620663
8Q24.3 Microdeletion Syndrome
Branchial cyst, Short neck, Short hallux, Cleft maxillary alveolar ridge, Short 5th finger, Abnor... ORPHA:508488
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Broad philtrum, Scoliosis, Cleft palate ORPHA:398156
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Abnormal femoral torsion, Tibial torsion, Long hallux, Abnormal thumb morphology, T... ORPHA:500095
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cleft upper lip, Kyphoscoliosis, Femoral retroversion, Cleft palate OMIM:607371
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Verheij Syndrome
Short 5th finger, Clinodactyly, Branchial cyst, Long philtrum, Joint hypermobility, Thin upper li... OMIM:615583
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Clinodactyly, Narrow mouth, Joint hypermobility, Short philtrum, High pa... ORPHA:96184
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Delayed eruption o... OMIM:119600
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of ... OMIM:241500
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Protru... OMIM:230600
Noonan Syndrome With Multiple Lentigines
Spina bifida occulta, Scoliosis ORPHA:500
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis morphology, Campt... ORPHA:2021
Spondylo-Ocular Syndrome
Platyspondyly, Long philtrum, Joint hypermobility, Short neck, Thin vermilion border, Osteoporosi... ORPHA:85194
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Tented upper lip ... OMIM:164745
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Achondrogenesis, Type Ii
Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent ... OMIM:200610
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Joint stiffness, Short neck, Abnormal oral frenulum mo... ORPHA:1752
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Cleft upper lip, P... OMIM:211350
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Dental crowding, Slender long bone, Persistent open anterior fontanelle... OMIM:620601
Seckel Syndrome 5
Selective tooth agenesis, 11 pairs of ribs, Oligodontia, Hypodontia, Enamel hypoplasia, Clinodact... OMIM:613823
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Atrial septal defect, Ventricular septal defect OMIM:309520
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Oligodontia, Thin upper lip vermilion, Brachydactyl... OMIM:616331
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple ptery... OMIM:253290
Mccune-Albright Syndrome
Precocious puberty, Gastroesophageal reflux, Increased circulating prolactin concentration, Goite... ORPHA:562
Larsen-Like Syndrome
Joint dislocation, Dental malocclusion, Radial deviation of the 4th finger, Kyphoscoliosis, Joint... OMIM:608545
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Broad long bones, Encephalocele, Sho... OMIM:224400
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Bifid uvula, Broad uvula, Umbilical hernia, Osteochondritis dissecans, Interv... OMIM:619656
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Joint stiffness, Joint hypermobility, Abnormal sacroili... ORPHA:2655
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Epiphyseal dysplasia, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep... OMIM:617425
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dural ectasia, Dental malocclusion, Camptodactyly of finger, Umbilical hernia, Osteo... ORPHA:284984
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Lower limb undergrowth... OMIM:186500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin... OMIM:608940
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Joint stiffnes... OMIM:619184
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Short neck, Anterior rib cupping, Broad pha... OMIM:271665
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Encephalocele, Joint hypermobility, Brachydactyly, H... ORPHA:93274
ERI1-related disease
Platyspondyly, Osteopenia, Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Incre... OMIM:608739
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo... ORPHA:85167
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Radioulnar synostosis, Everted lower... ORPHA:904
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Hypoplastic ilia, Limitation of joint mobility, Broad long bones, Clubbing of fing... ORPHA:1865
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Narrow mouth, Arachnodactyly, Short ... OMIM:265000
Trisomy 20P
Finger syndactyly, Short neck, Everted lower lip vermilion, Downturned corners of mouth, Preaxial... ORPHA:261318
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermilion,... OMIM:619980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Horizontal ribs, Fibula... OMIM:613091
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri... OMIM:253220
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Vomiting, Dilated cardiomyopathy OMIM:600649
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... OMIM:100800
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Joint hypermobility, Short philtrum, Orofacial cle... ORPHA:65286
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Knee osteoarthritis, Small proximal tibial epiphyses, S... OMIM:154780
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Smooth philtrum, Short philtrum, Scoliosis, Kyphosis... ORPHA:261190
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bilateral cleft palate, Short nec... ORPHA:56304
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Narrow mouth, Radioulnar synostosis, Short neck, Broad distal p... OMIM:245600
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Popliteal pterygium, Finger syndactyly, Fibrous syngnathia, Lip pit, Joint stiffn... ORPHA:1300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Peters Plus Syndrome
Toe syndactyly, Short toe, Long philtrum, Umbilical hernia, Intestinal fistula, Cleft upper lip, ... ORPHA:709
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Arachnodactyly, Radioulna... ORPHA:536467
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Short toe, Delayed eruption ... OMIM:619269
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnor... ORPHA:1860
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Constipation, Pituitary hypothyroidism, Ma... ORPHA:90674
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Femoral bowi... ORPHA:140
Lateral Meningocele Syndrome
Dural ectasia, Tethered cord, Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skul... OMIM:130720
Craniolenticulosutural Dysplasia
Bifid uvula, Osteopenia, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth, D... OMIM:607812
Myhre Syndrome
Platyspondyly, Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Abnormal epiphysis morphol... ORPHA:2588
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Basal Cell Nevus Syndrome 1
Irregular ossification of hand bones, Hamartomatous stomach polyps, Short distal phalanx of the t... OMIM:109400
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Wide mouth, Vertebral segmentation defect, Rib fusion, Short neck, Hemivertebrae... ORPHA:1394
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... OMIM:618476
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Smooth philtrum, Orofacial cleft, ... OMIM:193500
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Short neck, Aplasia/Hypoplasia ... OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Kyphos... OMIM:309583
Knobloch Syndrome 1
Occipital encephalocele, Joint hypermobility, Spina bifida occulta, Occipital meningocele, Pylori... OMIM:267750
Nail-Patella Syndrome
Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head, Lumbar hyperlord... OMIM:161200
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... OMIM:603116
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft palate, Abnormality of the vertebral column, Cleft upper lip, Abnormal rib morphology OMIM:601076
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... OMIM:235200
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Fibular hypoplasia... ORPHA:3144
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Cleft lip, Myelomeningocele, Short clavicles, Craniosynosto... ORPHA:60015
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased s... OMIM:166200
Oculoauricular Syndrome
Spina bifida occulta, Short mandibular rami OMIM:612109
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Enc... ORPHA:391474
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Lobulated tongue, Hamartom... ORPHA:2752
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Short neck, Abnormal metacarpal mor... ORPHA:251014
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Short thumb, Overlapping toe, Arachnodactyly, Radioulnar synostosis, Wrist f... ORPHA:436003
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Abnormal metacar... ORPHA:2658
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Postaxia... OMIM:174300
Opsismodysplasia
Hypoplastic ischia, Metaphyseal cupping, Hypoplasia of the odontoid process, Posterior rib cuppin... OMIM:258480
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Bcard Syndrome
Platyspondyly, Abnormality of the dentition, Osteopenia, Contracture of the proximal interphalang... OMIM:612394
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Flat acetabular roof,... OMIM:250220
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Tracheomalacia, Myelomeningocele, Short hard palate, Spina bi... ORPHA:1393
Occipital Horn Syndrome
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, E... ORPHA:198
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenital Toxoplasmosis
Hepatomegaly, Diarrhea, Cardiomegaly ORPHA:858
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Absent... ORPHA:93322
Scarf Syndrome
Abnormal form of the vertebral bodies, Long philtrum, Umbilical hernia, Joint hypermobility, Shor... ORPHA:3134
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Median cleft pal... OMIM:184705
Genitopalatocardiac Syndrome
Downturned corners of mouth, Non-midline cleft of the upper lip, Hydrocephalus, Brachydactyly, Po... ORPHA:2075
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Downturned ... OMIM:265050
Campomelia, Cumming Type
Clubbing of toes, Bowing of the long bones, Abnormal intestine morphology, Brachydactyly, Abnorma... ORPHA:1318
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... ORPHA:1106
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies, Delayed cranial suture clo... ORPHA:794
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Card... OMIM:212140
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Na... OMIM:600920
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Hi... ORPHA:800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, High pala... OMIM:147891
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, High palate, Rocker bottom foot, Sco... OMIM:616038
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Liver Failure Syndrome 3
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... OMIM:618641
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, In... ORPHA:666
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Anencephaly, Orofacia... ORPHA:1335
Cerebrocostomandibular Syndrome
Carious teeth, Cleft soft palate, Short hard palate, High palate, Pierre-Robin sequence, Posterio... OMIM:117650
Loeys-Dietz Syndrome 3
Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis, Eosinophilic infiltration ... OMIM:613795
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Metaphyseal irregularity, Rheumatoid arthritis, Short iliac bones, Lumbar hyperlor... OMIM:607944
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Delayed cranial suture closure, Abnormal dental enam... ORPHA:85199
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
49,Xxxyy Syndrome