Gene Summary

Name:
filamin, beta
Synonyms:
N/A

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased neutrophil cell number Flnbtm1b(KOMP)Wtsi HET Early adult 9.28×10-07
increased total body fat amount Flnbtm1b(KOMP)Wtsi HET Early adult 7.81×10-06
decreased lean body mass Flnbtm1b(KOMP)Wtsi HET Early adult 3.90×10-10
decreased bone mineral content Flnbtm1b(KOMP)Wtsi HET Early adult 2.68×10-06
decreased bone mineral density Flnbtm1b(KOMP)Wtsi HET Early adult 8.15×10-06
increased circulating serum albumin level Flnbtm1b(KOMP)Wtsi HET Early adult 3.27×10-05
preweaning lethality, complete penetrance Flnbtm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased red blood cell distribution width Flnbtm1b(KOMP)Wtsi HET Early adult 7.49×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Eye  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.05% (4 of 382)
ear 0.25% (1 of 395)
embryo 0.0%
eye 0.27% (1 of 375)
footplate 0.26% (1 of 378)
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
handplate 0.0%
head 1.05% (4 of 381)
heart 0.0%
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
liver 0.27% (1 of 377)
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.27% (1 of 365)
oral cavity 0.26% (1 of 379)
skin 0.0%
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Embryo LacZ

LacZ images wholemount

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Human diseases caused by Flnb 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 predicted to be associated to Flnb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Congenital Radioulnar Synostosis
Wrist pain, Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital h... ORPHA:3269
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Knee flexion contracture, Lumbar hyperlordosis, Short stature, Scoliosis, Congenital foot contrac... OMIM:602484
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Kyphosis, Rec... OMIM:259420
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the ulna, Abnormality of the humeroulnar joint, Apl... ORPHA:1570
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ... OMIM:151210
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Clinodactyly of the 5th finger, Abnorm... ORPHA:1836
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Kyphosis, Ovoid vertebra... ORPHA:40
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited elbow extension, Dislocated radial head OMIM:179300
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Tarsal-Carpal Coalition Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... OMIM:186570
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Disproportionate short stature, S... OMIM:618363
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Micromelia, Scoliosis, Enlarged thorax, Scapular... ORPHA:2616
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Abnormality of femoral ep... ORPHA:750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Metaphyseal cupping of proximal phalanges, Rhizomelia, 11 pairs ... OMIM:300863
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Decreased hip abduction, Intervert... OMIM:609223
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Broad palm, Metaphyseal widening, Brachydactyly, Thoracic ... OMIM:300232
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Knee pain, Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disprop... ORPHA:99642
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Scol... OMIM:610915
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Autosomal Recessive Kenny-Caffey Syndrome
Intrauterine growth retardation, Thin ribs, Carious teeth, Decreased skull ossification, Thin cla... ORPHA:93324
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Hip os... OMIM:132400
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Os odontoideum, Spondylolysis, Joint laxity, Respiratory failure, Lumba... OMIM:600561
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Asymmetry of the thorax, Delayed closure of the anter... OMIM:604922
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Disproporti... OMIM:271530
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Enlarged joints, Pectus excavatum, Limited elbow extension, Lumbar hyperlordo... ORPHA:156728
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Banki Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carp... ORPHA:1228
Distal Symphalangism
Synostosis of carpal bones, Camptodactyly of finger, Symphalangism affecting the phalanges of the... ORPHA:3248
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... ORPHA:485
Acrocapitofemoral Dysplasia
Genu varum, Ovoid vertebral bodies, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morph... ORPHA:63446
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Thin... ORPHA:73230
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Joint stiffness, Abnormality of ulnar metaphys... ORPHA:1040
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Increased arm span, Disproportionate short-trunk short stature, Abnormality of the tib... ORPHA:93284
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Reduced forced vital capacity, Thoracolumbar scoliosis, Lumbar hyper... OMIM:255600
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Abnormal ilium morphology, Irregularity of vertebral bodies... ORPHA:1159
Stuve-Wiedemann Syndrome 1
Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Single transverse p... OMIM:601559
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single transverse palmar cr... ORPHA:370010
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Hypoplastic iliac wing, Mesomelic arm shorteni... OMIM:609616
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Microgna... OMIM:108720
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Radioulnar disloca... ORPHA:2741
Three M Syndrome 2
Clinodactyly, Short neck, Short thorax, Intrauterine growth retardation, Small for gestational ag... OMIM:612921
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, ... ORPHA:2522
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... OMIM:277300
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Tip-toe gait, Short stature, Scoliosis, Spinal rigidity, Gait disturbance, Respira... OMIM:617404
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Kenny-Caffey Syndrome, Type 1
Short palm, Proportionate short stature, Intrauterine growth retardation, Delayed closure of the ... OMIM:244460
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Eiken Syndrome
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... ORPHA:79106
Cole-Carpenter Syndrome 2
Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Kyphosis, Coronal cran... OMIM:616294
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... OMIM:613848
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Radial head subluxation, Short metacarpal, Metacarpophalangeal synostosis, Tar... OMIM:186400
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Neonatal short-limb short stature, S... OMIM:100800
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Recurrent fractures, Vertebral... OMIM:617952
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Scapular winging, Ge... OMIM:305620
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Flexion contracture, Hypoplasia of the femoral head, Short femoral nec... OMIM:617396
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Pseudoepiphyses, Scoliosis... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Osteoporosis, Micromel... OMIM:184260
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short stature, Short middle phalanx of fing... ORPHA:1436
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Hyperlordosis, Knee flexion contracture, Hip contracture, Tip-toe ga... OMIM:615290
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Severe short stature, Posterior rib fusion, Disprop... OMIM:122600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Osteopo... OMIM:251450
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Increased bone mineral density,... ORPHA:90650
Rigid Spine Syndrome
Hamstring contractures, Pneumonia, Abnormality on pulmonary function testing, Hyperlordosis, Scol... ORPHA:97244
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Joint stiffness, Abno... ORPHA:1801
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... OMIM:312150
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Severe sho... OMIM:184250
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Spondylocostal Dysostosis 4, Autosomal Recessive
Restrictive ventilatory defect, Block vertebrae, Missing ribs, Short thorax, Abnormal rib morphol... OMIM:613686
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Craniosynostosis, Decreased body weight, Thin ribs, Micrognathia, Short stature, A... OMIM:618265
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... OMIM:253290
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Three M Syndrome 1
Clinodactyly of the 5th finger, Mandibular prognathia, Scapular winging, Hip dislocation, Short n... OMIM:273750
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Generalized joint laxity... OMIM:609325
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Osteopenia, Thin ribs, Increased arm span, Thenar muscle atrophy, Lumb... ORPHA:2463
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Intrauterine growth retardation, Rhizomelia, Thin ribs, Metaphyseal chondrodysplasia,... ORPHA:163966
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Hyperlordosis, Limited shoulder movement, Tip-to... ORPHA:62
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Intrauterine growth retardation, Short thor... ORPHA:1797
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Narrow chest, Femoral bowing OMIM:618188
Metatropic Dysplasia
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... ORPHA:2635
Kbg Syndrome
Clinodactyly, Cervical ribs, Single transverse palmar crease, Thoracic kyphosis, Vertebral arch a... OMIM:148050
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Short neck, Short ribs, Dysplastic sacrum, Tachypnea, Squared ... OMIM:613320
Mucopolysaccharidosis Type 4
Abnormal rib morphology, Scoliosis, Spinal canal stenosis, Genu valgum, Bowing of the long bones,... ORPHA:582
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Decreased body weight, Joint laxity, Pl... OMIM:615349
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Scoliosis, Metaphyseal widening, Genu valgum, Supernumerary ribs, Lateral clavicle ... OMIM:182212
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Severe short stature, Scoliosis, Genu valgum OMIM:168400
Mucolipidosis Type Iii
Abnormal hip bone morphology, Hypoplastic inferior ilia, Joint stiffness, Abnormal form of the ve... ORPHA:577
Dysspondyloenchondromatosis
Enlarged joints, Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibul... ORPHA:85198
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Scoliosis, Short middle phalanx of finger, Fused cervical... OMIM:309620
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Severe short stature, Irregular patellae, Osteoporotic metatarsal, Metaphy... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Flexion contracture, Hyperlordosis, Congenital foot contraction deformities, Waddling gait, Hip d... ORPHA:363454
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Li... OMIM:151200
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Abnormal form of the vertebral bodies, Tarsal synostosis, Posteri... ORPHA:2064
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... OMIM:114290
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Neonatal short-limb short stature, D... OMIM:222600
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... OMIM:118610
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Mucopolysaccharidosis, Type Iva
Large elbow, Osteoporosis, Disproportionate short-trunk short stature, Pointed proximal second th... OMIM:253000
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Acro-Renal-Mandibular Syndrome
Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemivertebrae, Hip dislocation, Short ... ORPHA:958
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Structural foot deformity, ... ORPHA:564003
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Clinodactyly of the 5th finger, Micrognathia, Abnormal r... OMIM:224690
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Camptodactyly of toe, Hallux valgus, Long metacarpals, Lateral clavicle ... OMIM:600920
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Hyperlordosis, Exertional dyspnea, Obstructive sleep ... ORPHA:352470
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology OMIM:188800
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Hyperlordosis, Respiratory insufficiency due to muscle weakness, S... OMIM:611067
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Waddling gait, Reduced vital capacity OMIM:617760
Familial Anetoderma
Lumbar hyperlordosis, Generalized joint laxity, Abnormality of tibia morphology ORPHA:228277
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extens... OMIM:180870
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Disproportiona... OMIM:223800
Lamb-Shaffer Syndrome
Thoracic kyphosis, Mild postnatal growth retardation, Micrognathia, Scoliosis, Fused cervical ver... ORPHA:530983
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Distal joint laxity, Hyperlordosis, Scoliosis, Scapular winging, Waddling gait OMIM:616228
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Achondroplasia
Hip joint hypermobility, Disproportionate short stature, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Disproportionate short-trunk short stature, Pointed proximal second through fifth m... OMIM:253010
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Diastrophic Dysplasia
Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dysplasia, Bowing of the long b... ORPHA:628
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis OMIM:309630
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, Short phalanx of finger, Flar... OMIM:612350
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of epiphysis morphology, Tapered finger,... ORPHA:970
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Flexion contracture, Hyperlordosis, Ankle flexion contracture, Wrist flexion contracture, Spinal ... ORPHA:267
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Abnormal form of the vertebral bodies, Hand oligodactyly, Clinodactyly o... ORPHA:3104
Kagami-Ogata Syndrome
Coxa valga, Flexion contracture, Thin ribs, Micrognathia, Hypoplasia of the maxilla, Long fingers... OMIM:608149
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... ORPHA:93352
Ck Syndrome
Kyphosis, Slender build, Hyperlordosis, Micrognathia, Joint hypermobility, Scoliosis, Retrognathi... OMIM:300831
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Inability to walk, Ataxia, Lumbar hyperlordosis, Short stature, Scoliosis, Hip dislocat... OMIM:616756
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Flexion contracture, Hyperlordosis, Respiratory insufficiency due to muscle... OMIM:300718
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Joint stiffness, Short neck, Kyphosis, Flared iliac wing, Hyperlo... OMIM:252605
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Hyperlordosis, Gait disturbance OMIM:618129
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Restrictive ventilatory defect, Short neck, Disproportionate short-trunk shor... OMIM:608681
Asymmetric Short Stature Syndrome
Asymmetric short stature, Micrognathia, Hemihypotrophy of lower limb, Fused cervical vertebrae, L... OMIM:108450
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Disproportionate shor... ORPHA:93315
Myopathic Ehlers-Danlos Syndrome
Tapered finger, Micrognathia, Scoliosis, Patellar subluxation, Flexion contracture, Contractures ... ORPHA:536516
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex conge... OMIM:265000
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Waddling gait, Ankle flexion contracture, Unsteady gait ORPHA:280333
Acromicric Dysplasia
Ovoid vertebral bodies, Short palm, Short metacarpal, Severe short stature, Cone-shaped epiphysis... OMIM:102370
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Upper limb asymmetry, Aplasia/Hypoplasia of the thumb, Radioulnar syno... ORPHA:3266
Frontometaphyseal Dysplasia
Limitation of knee mobility, Micrognathia, Scoliosis, Metaphyseal widening, Short diaphyses, Shou... ORPHA:1826
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis, Gait disturbance OMIM:614198
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Hip disloc... OMIM:311300
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Short stature, Scoliosis, Hip contracture, Respiratory insufficiency OMIM:619042
Poland Syndrome
Unilateral brachydactyly, Short ribs, Sprengel anomaly, Hypoplasia of deltoid muscle, Unilateral ... OMIM:173800
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Micromelia, Scoliosis, Short ... OMIM:250215
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Knee pain, Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morpho... ORPHA:166002
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Spondyloepiphyseal Dysplasia Congenita
Knee pain, Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Gen... ORPHA:94068
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Short tibia, Lim... OMIM:118651
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Talipes equinovarus, Vertebral fusion, Short long bone, Vertebral se... OMIM:618845
Kbg Syndrome
Thoracic kyphosis, Cervical ribs, Single transverse palmar crease, Short neck, Cutaneous syndacty... ORPHA:2332
Mesomelia-Synostoses Syndrome
Brachydactyly, Synostosis of carpal bones, Joint stiffness, Clinodactyly of the 5th finger, Abnor... ORPHA:2496
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis, Adducted thumb, Short stature OMIM:303350
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short thorax, Short neck, Narrow pel... ORPHA:66637
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Ataxia, Scoliosis, Postaxial han... OMIM:611560
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Hemivertebrae, Hip dislocation, Intra... OMIM:200980
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Broad metacarpals, Arthropathy, Osteolysis... OMIM:277950
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Short neck, Flexion contracture, Thoracolumbar scoliosis, Microg... OMIM:616549
Becker Nevus Syndrome
Supernumerary ribs, Upper limb asymmetry, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abno... ORPHA:64755
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Int... ORPHA:2311
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Severe short stature, Cone-shaped epiphysis... ORPHA:2511
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Disproportionate short-tr... OMIM:300106
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Short stature, Bow... OMIM:615220
Dyssegmental Dysplasia With Glaucoma
Short long bone, Elbow flexion contracture, Platyspondyly, Flared metaphysis, Micromelia, Short s... OMIM:601561
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Accelerated skeletal maturation, Hip osteoarthritis, Short thumb, Broad hallux, Os... OMIM:165800
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Disproportionate short stature, Short toe, Ovoid vertebra... OMIM:602875
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... OMIM:617719
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Micrognathia, Scoliosis, Vertebral fusio... OMIM:268310
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Stiff ne... OMIM:616583
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Micrognathia, Abnormal rib cage morphology, Ulnar deviation of the hand or... OMIM:114300
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Spinal canal stenosis, Vertebral fu... OMIM:263540
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Nemaline Myopathy 2
Flexion contracture, Slender build, Inability to walk, Hyperlordosis, Steppage gait, Respiratory ... OMIM:256030
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Kyphoscoliosis,... OMIM:212540
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Accelerated... OMIM:190351
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Kyphosis, Short neck, Short femoral neck, Hip osteoarthritis, Shield chest, ... OMIM:313400
Dystonia With Ringbinden
Hyperlordosis, Gait disturbance OMIM:224550
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Severe short stature, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitati... ORPHA:168555
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Narrow chest, Hyperlordosis, Spinal rigidity, Gait disturbance, Respiratory ... ORPHA:157973
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Three M Syndrome 3
Decreased body weight, Short neck, Short thorax, Small for gestational age, Increased vertebral h... OMIM:614205
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Clinodactyly, Short neck, Platyspondyly, Lumbar hyperlordosis, Short stature, Epiphyseal dysplasi... OMIM:184000
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Broad palm, Scoliosis, Metaphyseal widening, Genu val... OMIM:250420
Gracile Bone Dysplasia
Brachydactyly, Thin ribs, Decreased skull ossification, Flared metaphysis, Failure to thrive, Sho... OMIM:602361
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... OMIM:271630
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:3098
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Hyperlordosis, Abnormality of femur morphology, Lower limb u... ORPHA:2310
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis ORPHA:2010
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Narrow chest, W... OMIM:187601
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm, Decrease... OMIM:215140
Heyn-Sproul-Jackson Syndrome
Decreased body weight, Intrauterine growth retardation, Short metacarpal, 11 pairs of ribs, Sever... OMIM:618724
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Disproportionate short-limb short stature, ... OMIM:250230
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Edema, Pulm... OMIM:267450
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Disproportionate ... OMIM:619636
Atypical Rett Syndrome
Kyphosis, Loss of ability to walk, Episodic tachypnea, Inability to walk, Growth delay, Abnormal ... ORPHA:3095
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Respiratory failure requiring assisted ve... ORPHA:79345
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Flexion contracture, Joint stiffness, Delayed closure of the anterior fontan... OMIM:614008
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Decreased body weight, Kyphosis, Delayed ossification of carpal bones, Small for g... OMIM:618392
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Ring Chromosome 21 Syndrome
Clinodactyly, Abnormal thorax morphology, Narrow palm, Fused thoracic vertebrae, Scoliosis, Short... ORPHA:1445
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Knee pain, Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation,... OMIM:184100
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Narrow chest, Br... OMIM:615777
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elbow flexion contracture, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip cont... OMIM:600175
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... OMIM:615285
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Osteoporosis, Irregular carpal bones, Genu valgum, Hip dislocation, Shortening... OMIM:226980
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Flexio... OMIM:611717
Crisponi/Cold-Induced Sweating Syndrome 2
Clinodactyly, 2-3 toe syndactyly, Thoracolumbar scoliosis, Limited elbow extension, Lumbar hyperl... OMIM:610313
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Narrow chest, Brachydactyly, Increas... ORPHA:763
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Radioulnar synostosis, Tarsal s... OMIM:605282
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Short neck, Osteochondrosis, Abnormal vertebral morphology, Micrognathia,... ORPHA:96183
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Short stature, Camptodactyly, Overlapping toe OMIM:618453
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Hammertoe, Severe short stature, Short thumb, Hy... ORPHA:2319
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Micromelia, Scoliosis, Scapular winging, Genu valgum, Brachydactyly, Sin... OMIM:618870
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Hyperlordosis, Scoliosis, Slender long bone, Reduced bone mineral density ORPHA:262
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Severe short stature, Tapered finger, Thoracolumbar scoliosis, Scleros... OMIM:313420
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
Dysostosis, Stanescu Type
Brachydactyly, Bowing of the long bones, Wormian bones, Short neck, Increased bone mineral densit... ORPHA:1798
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Joint stiffness, Disproportionate short-limb short stature,... OMIM:127200
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Short stature OMIM:253320
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Multiple Epiphyseal Dysplasia Type 1
Knee pain, Genu varum, Finger joint hypermobility, Knee joint hypermobility, Delayed epiphyseal o... ORPHA:93308
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Second metatarsal posteriorly placed, Rocker bottom foot, Osteoporosis, Micrognathia,... OMIM:214150
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Abnormal hip bone morphology, Finger syndactyly, Joint stiffness, Hyp... ORPHA:1323
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Congenital Bowing Of Long Bones
Bowing of the long bones, Hyperlordosis ORPHA:2292
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Growth delay, Scoliosis, Short stature, Vertebral fus... OMIM:615583
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Short long bone, Premature osteoarthritis, Short palm, Flexion contractu... OMIM:215150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness,... OMIM:608940
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Asymmetry of the t... ORPHA:1350
Hallermann-Streiff Syndrome
Wormian bones, Slender long bone, Tracheomalacia, Proportionate short stature, Small for gestatio... OMIM:234100
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint stiffness, ... OMIM:208230
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Achondrogenesis Type 2
Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ossification, Short rib... ORPHA:93296
Severe Congenital Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Thin ribs, Abnormal thorax morphology, Adducted... ORPHA:171430
Ivic Syndrome
Synostosis of carpal bones, Joint stiffness, Triphalangeal thumb, Aplastic clavicle, Hypoplasia o... ORPHA:2307
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosis, Distal symphalangism of hand... OMIM:185900
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Scoliosis, Scapular winging, Flat capital femoral epiphysis, Cone-shaped epiphyses ... OMIM:190350
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Joint stiffness, Shor... ORPHA:968
Nemaline Myopathy 7
Knee flexion contracture, Lumbar hyperlordosis, Respiratory insufficiency due to muscle weakness,... OMIM:610687
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Hip dislocation, Abnormality of epiphysis morphology, Abn... ORPHA:93359
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Flared elbow metaphyses, Micrognathia, Micromelia, Generalized o... ORPHA:1423
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Isolated Glycerol Kinase Deficiency
Short stature, Hyperlordosis, Osteoporosis, Scoliosis ORPHA:408
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulgi... OMIM:600081
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Ck Syndrome
Long toe, Slender build, Joint hypermobility, Lumbar hyperlordosis, Long fingers, Microretrognath... ORPHA:251383
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Aarskog-Scott Syndrome
Finger syndactyly, Short palm, Single transverse palmar crease, Joint hyperflexibility, Short nec... ORPHA:915
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Decreased ... ORPHA:93267
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Short neck, Rhizomelia, Joint laxity, Platyspondyly, Barrel-s... OMIM:612813
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Osteoporosis, Hallux v... OMIM:271640
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Growth delay, Scoliosis, S... ORPHA:177
Nemaline Myopathy 3
Slender build, Hyperlordosis, Polyhydramnios, Respiratory insufficiency due to muscle weakness, S... OMIM:161800
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Failure to thrive OMIM:616022
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Myopathy, Congenital, With Tremor
Flexion contracture, Micrognathia, Lumbar hyperlordosis, Scoliosis, Spinal rigidity, Scapular win... OMIM:618524
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Kyphosis, Short metacarpal, Clinodactyly of the 5th fi... ORPHA:3121
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Reduced vital capacity OMIM:607088
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Radial head subluxation, Generalized joint laxity, Scoliosis, Fragmented epiphyses, G... ORPHA:93360
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phal... OMIM:271665
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Severe short stature, Hypoplasia of the odontoid process, Elbow dislocati... OMIM:264180
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th ... ORPHA:1388
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Fanconi Anemia, Complementation Group I
Absent thumb, Decreased body weight, Short neck, Intrauterine growth retardation, Hypoplasia of t... OMIM:609053
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Short distal phalanx of finger, Short stature, Broad thumb, Camptodactyly o... ORPHA:1471
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Clinodactyly of the 5th finger,... OMIM:617604
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Trisomy 4P
Short neck, Radial club hand, Carious teeth, Preaxial hand polydactyly, Scoliosis, Short stature,... ORPHA:1738
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Short neck, Weight loss, Abnormality of epiphysis morphology, Rhizomel... ORPHA:1842
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplasia of the radius, Hypoplastic scapulae, Decre... OMIM:200600
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Platyspondyly, Micromelia, Abnormal cartilage morphol... ORPHA:296
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Clinodactyly of the 5th finger, Growth delay, Limited elbow extension ... OMIM:244600
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, 2-3 toe syndactyly, Lumbar hyperlordosis, Scoliosis... ORPHA:313892
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Short metacarpal, Rhiz... ORPHA:2831
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Decreased body weight, Short neck, Short metacarpa... OMIM:615222
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Short phalanx of finger, Pectus excavatum, Long fingers, Proximal placement of th... OMIM:613458
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Abn... ORPHA:1837
Cog1-Cdg
Butterfly vertebrae, Vertebral segmentation defect, Irregularity of vertebral bodies, Coxa valga,... ORPHA:263508
Martsolf Syndrome 1
Short palm, Tracheomalacia, Short metacarpal, Joint laxity, Broad fingertip, Short phalanx of fin... OMIM:212720
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Scoliosis, Vertebral fusion, ... OMIM:272460
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof, Platyspondyly, Metap... OMIM:617974
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Intrauterine growth retardation, Short sternum, Short metacarpal, Short r... OMIM:266910
Pycnodysostosis
Brachydactyly, Wormian bones, Abnormality of pelvic girdle bone morphology, Increased bone minera... OMIM:265800
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Short stature, Limb undergrowth, Massively thickened... OMIM:122900
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Shortening of all middle pha... OMIM:600593
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Symphalangism, Distal
Brachydactyly, Craniosynostosis, Distal symphalangism of hands, Absent dorsal skin creases over a... OMIM:185700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intrauterine growth retardation, Abnormality of fibula morphology, Tibi... ORPHA:3035
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hammertoe, Steppage gait, Gait disturbance, Dyspnea, Lumbar hyperlordosis, Tip-toe gait, Limited ... ORPHA:435387
Chondrodysplasia, Blomstrand Type