Not currently registered for phenotyping at IMPC

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

Gene Summary

brachyury, T-box transcription factor T
Bra,  Tbxt,  T1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by T mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spastic Paraplegia 25, Autosomal Recessive
Back pain, Spinal cord compression OMIM:608220
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis OMIM:184400
Kyphomelic Dysplasia
Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Lateral clavicle hook, Micrognat... ORPHA:1801
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Micrognathia... ORPHA:2522
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Poland Syndrome
Unilateral oligodactyly, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Thoracic platyspondyly, Narrow chest, Short ribs, Death in childh... OMIM:618961
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Short neck, Genu valgum, Bell-shaped thorax, Joint hyperflexibi... ORPHA:1803
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Short thumb, Abnormal vertebral morphology, Spina bifida occulta at S1 OMIM:102510
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Vertebral segmentation defect OMIM:618845
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, F... OMIM:613330
Achondrogenesis, Type Ib
Micromelia, Stillbirth, Narrow chest, Short ribs, Absent or minimally ossified vertebral bodies OMIM:600972
Edema OMIM:614103
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Delayed proxima... ORPHA:93296
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187601
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Short neck, Micrognathia, Kyphosis, Prenatal death, Camptodactyly, Neonatal dea... OMIM:618393
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... ORPHA:168549
Nevus Comedonicus Syndrome
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis, Spina bifida ORPHA:64754
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... OMIM:617405
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Hydroc... ORPHA:63259
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... ORPHA:485
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... OMIM:616549
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Bell... OMIM:602557
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scolios... ORPHA:64755
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia, Short neck, Flat acet... OMIM:151210
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Fibrochondrogenesis 2
Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Chondrodysplasia, Blomstrand Type
Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Advanced o... OMIM:215045
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Pectus carinatum, Irregular vertebral... OMIM:609223
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Short palm OMIM:101805
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Micrognathia ORPHA:530983
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Knee dislocation, Narrow chest, Neonatal death, Verte... OMIM:108720
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Micromelia, Short neck, Delayed skeletal maturation, Delayed epiphyseal ossific... OMIM:613320
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... OMIM:612852
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Radio... ORPHA:1988
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... OMIM:113000
Three M Syndrome 1
Joint dislocation, Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Delay... OMIM:273750
Heart Defects-Limb Shortening Syndrome
Death in infancy, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis... ORPHA:1354
Hypophosphatasia, Infantile
Death in infancy, Craniosynostosis, Micromelia, Vertebral clefting, Increased susceptibility to f... OMIM:241500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short thumb, Short toe, Short distal phalanx of the thumb, Cervical C2/C3 vertebral fusion, Short... ORPHA:370010
Stillbirth OMIM:265880
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Short neck, Beaded rib... OMIM:200600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Micrognathia ORPHA:2305
Fibrochondrogenesis 1
Short neck, Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Rhizomelia... OMIM:228520
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... OMIM:184460
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates,... OMIM:184255
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangeal joint contrac... OMIM:151200
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Stillbirth, Short r... OMIM:200610
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Micrognathia ORPHA:1514
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, A... ORPHA:2347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187600
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... OMIM:224300
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... OMIM:618000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Short neck, Multiple prenatal ... OMIM:616897
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Limitation of joint... ORPHA:90650
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Rhizomelia, Micromelia, Short neck, Abnormality of the elbow, Bell-shaped thor... ORPHA:1842
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... ORPHA:2021
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest OMIM:617661
Rhizomelic Chondrodysplasia Punctata
Limb undergrowth, Spina bifida occulta, Rhizomelia, Scoliosis ORPHA:177
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Short clavicles, Spina bifida occulta OMIM:169550
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... OMIM:259440
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis OMIM:257350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Fibrodysplasia Ossificans Progressiva
Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tis... ORPHA:337
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micromelia, Missing ribs, Micrognathia, Vertebral wedging, Decreased calvarial ossification, Plat... OMIM:617866
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ... OMIM:601344
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Lateral clavic... OMIM:171480
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Short tibia, Thin ribs, Coronal cleft vertebrae, Decreased calvarial ossi... OMIM:620076
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Short femur, Generaliz... OMIM:100800
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius,... ORPHA:1570
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... ORPHA:93315
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Micromelia, Short neck, Micrognathia, Flexion contracture, Limitation of joint mobil... ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Scoliosis OMIM:618736
Acrofacial Dysostosis, Palagonia Type
Short neck, Micrognathia, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spina bif... ORPHA:1787
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... ORPHA:1724
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Pectus carinatum, Narrow chest, Short palm, Short ti... OMIM:607778
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Thin ribs, Platyspondyly, Hypoplasia of the calcaneus, Decreased sk... OMIM:300863
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Sifrim-Hitz-Weiss Syndrome
Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles, Wormian bones OMIM:617159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre... OMIM:109400
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Genu valgum, Irregular chond... OMIM:250420
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Aplastic clavicle, Accelerated skel... ORPHA:50945
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... OMIM:609053
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Rib fusion,... OMIM:611209
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression, Scoliosis, Shor... OMIM:222600
Braddock Syndrome
Missing ribs, Pectus excavatum, Short neck, Micrognathia, Hemivertebrae, Scoliosis ORPHA:52047
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... OMIM:617719
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... OMIM:615583
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Hypoplastic cervical verte... ORPHA:56304
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... OMIM:617974
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small hand, Short foot, J... ORPHA:915
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Short metatarsal, Spina bifida occulta, Wrist flexion contr... ORPHA:1826
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micromelia, Short neck, Micrognathia, Limitation of joint mobility, Advanced ossification of carp... OMIM:224400
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthriti... OMIM:271650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat gl... OMIM:224690
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... OMIM:119600
Craniosynostosis 6
Spina bifida occulta, Scoliosis OMIM:616602
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short thorax, Poorl... ORPHA:3003
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... ORPHA:2619
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Accelerated skeletal maturation, Short neck, Lateral clavicle h... ORPHA:3144
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... ORPHA:2839
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Brachyolmia Type 2
Platyspondyly OMIM:613678
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, S... ORPHA:3219
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyp... ORPHA:2911
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Limitation of joint m... ORPHA:2990
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Multiple joint dislocation, Hip dislocation, Th... OMIM:618395
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thoracic hypoplasia OMIM:619751
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger OMIM:601370
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Platyspondyly, Osteoarthritis ORPHA:93283
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Rib fusion, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Pallister-Hall-Like Syndrome
Death in infancy, Micromelia, Micrognathia, Hip dislocation, Short ribs OMIM:241800
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Micrognathia, Knee flexion contracture, Abnormal calcification of the car... OMIM:271665
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Micrognathia, Kyphosis, Scoliosis, Spina bifida occulta OMIM:618291
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... OMIM:608022
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Limitation of joint mobi... ORPHA:1486
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Neonatal death, Arthrogryposis multiplex congenita, Wid... OMIM:253310
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... OMIM:603116
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Prieto Syndrome
Patellar subluxation, 11 pairs of ribs, Osteoporosis, Patellar dislocation OMIM:309610
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Congenital hip dislocation, Hypoplastic scapulae... OMIM:308050
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Spina bifid... ORPHA:2437
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Thoracic dysplasia, Short ribs, Thoracic ... OMIM:615630
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Pyle Disease
Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ... OMIM:265900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... ORPHA:1159
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Dislocated radial he... OMIM:268310
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Short femoral neck, Tho... OMIM:602271
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Short thumb, Hypoplasia of th... OMIM:607323
Split Cord Malformation Type I
Diastomatomyelia, Scoliosis ORPHA:1671
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... OMIM:148050
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Short metacarpal, Block vertebrae, Tarsal synostosis, Hyperlo... OMIM:272460
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Short neck, Micrognathia, Abnormal rib morphology, Plat... ORPHA:93267
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Lumbar hemivertebrae, Missing ribs, Short neck OMIM:619859
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Spina bifida occulta, Short 5th metacarpal, Spondylolisthesis OMIM:617877
Microcephaly-Micromelia Syndrome
Craniosynostosis, Missing ribs, Short neck, Micromelia, Micrognathia, Humeroradial synostosis, Ab... OMIM:251230
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis OMIM:618624
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Micrognat... OMIM:134780
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint... OMIM:619122
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Elbow dislocation, Pectus ex... OMIM:150250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Sillence Syndrome
Back pain, Aplasia of the middle phalanx of the hand, Flat acetabular roof, Platyspondyly, Short ... ORPHA:3168
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Mesomelic arm shortening, Flat acetabular roof, Short foot, Ir... OMIM:609616
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Supernumerary ribs, Scoliosis, Bifid ribs,... ORPHA:50
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Sh... ORPHA:508498
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Hypoplasia of the radius, Short ribs, Short tibia, Butter... OMIM:607143
Caudal Duplication
Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Atlantoaxial instability, Punctate vertebral calcifications, Spinal canal sten... ORPHA:79345
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Sclerosis of skull base, ... OMIM:130720
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathi... ORPHA:263508
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly, Genu valgum OMIM:609324
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma... ORPHA:1834
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Abnormal acetabulum morphology, Long clavicles, Micrognathia, Rh... ORPHA:397715
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Lateral clavicle hook, Abnormal shoulder morphology, Phocomelia, Genu varum, Death ... OMIM:274000
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, An... OMIM:161200
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Cupped ribs, Delayed epiphyseal ossif... OMIM:250220
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Micrognathia, Thin ribs... OMIM:617952
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Microretrognathia, Rhizomelia, Recurrent fractures, Beaded ri... OMIM:616229
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Micrognathia, La... OMIM:600920
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Missing ribs OMIM:220210
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:52
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Scoliosis, Bifid ri... OMIM:304050
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Wide anterior fontanel, Micrognathia, Fibular hypoplasia, Decr... OMIM:617925
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Spina bifida occulta, Short 1st metacarpal, ... ORPHA:949
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Lateral clavicle hook, Fibular hypoplasia, Short rib... OMIM:613091
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d... ORPHA:90652
Juberg-Hayward Syndrome
Short thumb, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radius, Radioul... ORPHA:2319
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Micromelia, Lateral clavicle hook, Hypoplasia of the radius, Short ribs, Nar... OMIM:617895
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Short neck, Micrognathia, Elbow flexion contracture, Knee flex... OMIM:616266
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... ORPHA:1802
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ... ORPHA:85172
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... OMIM:617137
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short toe, Short thorax, Short foot, Limb undergrowth, Thoracic... OMIM:269860
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, ... ORPHA:87
Grant Syndrome
Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morphology, Join... ORPHA:2097
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Disproportionate shortening of the tibia, Platyspondyly,... OMIM:263520
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... OMIM:607326
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Undulate ribs, Thin ribs, Sub... OMIM:618188
Acrofacial Dysostosis, Catania Type
Microretrognathia, Spina bifida occulta, Small hand, Short palm ORPHA:1786
Achondrogenesis Type 1B
Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short thorax, Abnormal ri... ORPHA:93298
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Short thorax, Hip disloc... ORPHA:2484
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Short thorax, Joint hyperfl... ORPHA:93274
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Flat acetabu... OMIM:256050
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Short foot, Fused cervi... OMIM:157800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... OMIM:208230
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... ORPHA:1345
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... ORPHA:166011
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest ORPHA:1703
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... OMIM:609220
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis... ORPHA:1507
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Micromelia, Flat acetabular roof, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:614091
3Mc Syndrome
Hyperlordosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida occulta, Caudal appendage ORPHA:293843
Osteopathia Striata-Cranial Sclerosis Syndrome
Hyperlordosis, Spina bifida occulta, Scoliosis, Micrognathia ORPHA:2780
Weaver Syndrome
Dysharmonic bone age, Short fourth metatarsal, Accelerated skeletal maturation, Kyphosis, Short r... OMIM:277590
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly... OMIM:608940
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Micrognathia, Knee flexion contracture, Short ribs, Pathologic fracture OMIM:156400
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation, Mesomelia, Neonatal death, S... OMIM:146510
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Narrow chest, Short tibia, Interpha... ORPHA:96334
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Narrow chest, Acetabular spurs, Short ribs... OMIM:225500
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short ... ORPHA:93299
Carpenter Syndrome 1
Sacral dimple, Short neck, Micrognathia, Aplasia/Hypoplasia of the middle phalanges of the toes, ... OMIM:201000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Hydr... OMIM:600145
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly OMIM:156510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Limb undergrowth,... ORPHA:93352
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Spina bifida occulta, Scoliosis, Short neck OMIM:193700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Unicoronal synostosis, Flat acetabular roof, Fibular hypoplasia, B... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Pectus cari... OMIM:184250
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Tetraamelia ORPHA:3301
Dental Anomalies And Short Stature
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... OMIM:601216
Limb Body Wall Complex
Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida, Abnormal spin... ORPHA:2369
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Multiple rib fractures, Thin bony cortex, Rhizomeli... OMIM:613848
Seckel Syndrome 5
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Short middle phalanx of finger, Scol... OMIM:613823
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Pectus excavatum, Flat acetabular roof,... OMIM:608728
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Recurrent fractures, Small abnormally forme... ORPHA:140
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... ORPHA:2771
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Micrognathia, Short neck, Short distal phalanx of the 5th finger, Short foot, S... OMIM:620073
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Short hallux, Micrognathia, Kyphosis, Delayed skel... ORPHA:280
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Micrognathia, Hemivertebrae, Rib fusion, ... ORPHA:97360
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Accelerated skeletal maturation, Short neck, Micrognathia, Multiple joint dislocation... OMIM:245600
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micrognathia, Hypopla... OMIM:200980
Shprintzen-Goldberg Syndrome
Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow dislocation, Pectus... ORPHA:2462
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Short fo... OMIM:227330
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... ORPHA:93314
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Scoliosis OMIM:617360
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... ORPHA:2078
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Narrow... OMIM:304120
Cleidocranial Dysplasia
Hypoplastic scapulae, Micrognathia, Abnormal sacrum morphology, Short clavicles, Scoliosis, Spina... ORPHA:1452
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Micrognathia, Wide anterior fontanel, Vertebral arch ... ORPHA:85184
Cole-Carpenter Syndrome
Recurrent fractures, Micrognathia, Kyphosis, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:2050
3C Syndrome
Death in infancy, Missing ribs, Short neck, Kyphosis, Micrognathia, Hemivertebrae, Scoliosis ORPHA:7
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Thi... ORPHA:83617
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Recurrent fractures, Multiple pr... OMIM:610915
Anus, Imperforate
Ectopic anus, Anal atresia OMIM:301800
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... OMIM:614856
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Hall-Riggs Syndrome
Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... OMIM:234250
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphology, Abnormal form of ... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Platyspon... OMIM:602111
Distal Deletion 10Q
Lumbar hyperlordosis, Spina bifida occulta, Short metatarsal, Micrognathia ORPHA:96148
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... OMIM:613803
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Micrognathia, Short toe, Short thumb, Hip dislocatio... OMIM:613458
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, Short thumb, ... OMIM:263750
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Delayed skeletal maturation, Patellar aplasia, Hypoplasia of ... OMIM:617604
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Thoracic dysplasia, Narrow chest, Short ribs, Acetabular spurs OMIM:615503
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, P... ORPHA:60041
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal OMIM:618724
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... ORPHA:2370
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... OMIM:271640
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ... ORPHA:3404
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Micromelia, Elbow dislocation, Short thumb, Hypoplasia of the radius, Hip... ORPHA:3258
Lymphangiectasia, Intestinal
Stillbirth, Edema, Pedal edema OMIM:152800
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Seckel Syndrome 8
Spinal cord compression, Kyphoscoliosis, Micrognathia OMIM:615807
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness OMIM:252920
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... OMIM:255800
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Short thorax, Joi... ORPHA:2655
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... OMIM:619698
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Micromelia, Hyperlordosis, ... ORPHA:2616
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... OMIM:269150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Thin ribs, Short foot, Platyspondyly, Short palm ORPHA:163966
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Prominent metopic ridge, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, Wide... OMIM:266920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Lower limb undergrowth, Micrognathia ORPHA:3035
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Hypoplasia of the radiu... ORPHA:233
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Short foot, Scoliosis, Short palm, Umbilical hernia, Spina bifida occulta OMIM:235510
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, Small hand, Short foo... OMIM:617140
Lymphatic Malformation 2
Lymphedema OMIM:611944
Odontochondrodysplasia 1
Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof, Pectus carinatum,... OMIM:184260
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality... ORPHA:239
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Lumbar scoliosis, Hypoplastic cervical vertebrae, Scoliosis OMIM:620269
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Abnormality of the elbow, Fla... ORPHA:163649
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum ORPHA:250984
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... OMIM:239850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Joint hypermobility, Joint stiffness, Scoliosis, Short palm, Tracheobronchomala... OMIM:619184
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... ORPHA:93360
Kniest Dysplasia
Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Delayed epiphyseal ossification, ... OMIM:156550
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Short hallux, Micrognathia, Kyph... OMIM:194190
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ... OMIM:105650
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Focal Dermal Hypoplasia
Camptodactyly of finger, Short ribs, Scoliosis, Short clavicles, Coarse metaphyseal trabeculariza... ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Aplastic clavicle, Short neck, Short ribs, Narrow chest OMIM:616546
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... ORPHA:319195
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Short thumb, Abnormal rib morphology, Vertebral segmentation defect, Short dist... ORPHA:1120
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Short foot, Spina bifida occulta, Distal shortening of limbs ORPHA:488434
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... ORPHA:93346
Seckel Syndrome 1
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Elbow flexion contracture, Hip dislo... OMIM:210600
Acro-Renal-Ocular Syndrome
Vertebral fusion, Hypoplasia of the ulna, Short humerus, Short hallux, Radial club hand, Short th... ORPHA:959
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia OMIM:601076
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Hyper... ORPHA:73230
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo... ORPHA:1856
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility ORPHA:90653
Acrofacial Dysostosis 1, Nager Type
Abnormality of the cervical spine, Aplasia/Hypoplasia of the thumb, Micrognathia, Absent thumb, A... OMIM:154400
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Anus, Imperforate
Anal atresia OMIM:207500
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis OMIM:619638
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Micrognathia, Short neck, Kyphosis, Aplasia/Hypoplasia of toe, Abnormal rib morphology, Aplasia/H... ORPHA:3082
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Short neck, Micrognat... ORPHA:958
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Platyspondyly, Osteosc... ORPHA:174
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia OMIM:618356
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Sacral dimple, Micrognathia, Wide anterior fontanel, Hydrocephal... ORPHA:235
Basilar Impression, Primary
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck OMIM:109500
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Accelerated skeletal ma... OMIM:253220
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Spondyloepiphyseal Dysplasia Congenita
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... OMIM:300232
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
3Mc Syndrome 1
Sacral dimple, Wide anterior fontanel, Short foot, Short 5th finger, Spina bifida occulta, Caudal... OMIM:257920
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Death in infancy, Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture... OMIM:618947
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... ORPHA:3068
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... ORPHA:444077
Cranioectodermal Dysplasia 2
Joint laxity, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathia, Mesomelia... OMIM:613610
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Broad ribs, Absent para... OMIM:269300
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, Abnormal... ORPHA:1318
Camptodactyly Syndrome, Guadalajara, Type Iii
Spina bifida occulta, Short neck OMIM:611929
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Rhizomelia, Recurrent... OMIM:610682
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Arthritis, Platyspondyl... OMIM:108300
Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis ORPHA:166272
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:615222
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... OMIM:230500
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Micrognathia, Hydrocephalus, Fibular hypoplasia, Scoliosis, Thoracolu... OMIM:300373
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Limited elb... OMIM:607095
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Cantú Syndrome
Ovoid vertebral bodies, Accelerated skeletal maturation, Short neck, Delayed skeletal maturation,... ORPHA:1517
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Short toe, Limitation of joint mobility, Enlarged ... OMIM:139210
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Accelera... ORPHA:373
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Short neck ORPHA:50810
Ollier Disease
Platyspondyly, Bone pain, Osteolysis, Joint stiffness ORPHA:296
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Anisospondyly, Micrognathia, Neonatal death, Pterygium, Thoracic hypoplasia OMIM:224410
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... OMIM:156500
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Calvarial Doughnut Lesions With Bone Fragility