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
increased circulating serum albumin level Flnbtm1b(KOMP)Wtsi HET Early adult 3.27×10-05
decreased red blood cell distribution width Flnbtm1b(KOMP)Wtsi HET Early adult 7.49×10-08
decreased bone mineral density Flnbtm1b(KOMP)Wtsi HET Early adult 8.15×10-06
decreased neutrophil cell number Flnbtm1b(KOMP)Wtsi HET Early adult 9.28×10-07
decreased bone mineral content Flnbtm1b(KOMP)Wtsi HET Early adult 2.68×10-06
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
preweaning lethality, complete penetrance Flnbtm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Whole Body Lateral Orientation

7 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

MicroCT E18.5

Embryo reconstruction

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Immunophenotyping

Panel A FCS file(s)

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

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
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... ORPHA:3269
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Vertebral segmentation defect, Abnor... ORPHA:1570
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... ORPHA:2501
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Knee flexion contracture, Hip contracture, Congenital foot contractures, Short stature, Narrow pe... OMIM:602484
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Denti... OMIM:259420
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... ORPHA:40
Metaphyseal Anadysplasia
Abnormal ulnar metaphysis morphology, Joint stiffness, Abnormal morphology of ulna, Aplasia/Hypop... ORPHA:1040
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Shor... OMIM:618395
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... OMIM:151210
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Vertebral segmen... ORPHA:1836
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
3M Syndrome
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Short neck, Delayed skeletal maturat... ORPHA:2616
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Short stature, Distal ... OMIM:300863
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Tarsal-Carpal Coalition Syndrome
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... OMIM:186570
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... OMIM:609813
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... OMIM:222600
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Generali... OMIM:132400
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Small for gest... OMIM:166210
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Difficulty walking, Disproportionate... ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio... OMIM:271650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Genu valgum, Broad femoral neck, Intervertebral space narrowing, Irregular vertebral ... OMIM:609223
Osteogenesis Imperfecta, Type Viii
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... OMIM:610915
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... ORPHA:93324
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Synostosis of carpal ... ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Short stature, Clinodactyly of the 5th finger, Radio... ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Delayed skeletal maturat... OMIM:300232
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Triangular shape... ORPHA:73230
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Epiphyseal streaking, Dentinogenesis imperfecta, Delayed c... OMIM:604922
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Thoracic hypoplasia, Micrognathia, Flattened e... OMIM:618363
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Ankle clonus, Spondylolisthesis at L5-S1, Short stature, Atlantoaxial dislocation,... OMIM:600561
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... OMIM:271530
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... OMIM:228520
Thoracomelic Dysplasia
Bell-shaped thorax, Genu valgum, Hyperlordosis, Short ribs, Gait disturbance, Abnormal pelvic gir... ORPHA:1803
Kniest Dysplasia
Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Abnormal cartilage collagen... ORPHA:485
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Short stature, Corner fractu... OMIM:184255
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Short stature, Pectus excavatum, Bowing of the legs, Waddling gait, Dispropo... ORPHA:156728
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Banki Syndrome
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... ORPHA:1228
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... OMIM:613848
Acrocapitofemoral Dysplasia
Genu varum, Hyperlordosis, Short thorax, Coxa vara, Short stature, Flared iliac wing, Cone-shaped... ORPHA:63446
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Calvarial osteosclerosis,... OMIM:244460
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Short stature, Spinal rigidity, Achilles tendon contracture, Reduced for... OMIM:255600
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... ORPHA:1263
Three M Syndrome 2
Hyperlordosis, Dental malocclusion, Short thorax, Short 5th finger, Short stature, Delayed erupti... OMIM:612921
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Decreased body weight, Short stature, Slender long bone, Micrognathia, Decreased ca... OMIM:618265
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... OMIM:609616
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Pectus excavatum,... ORPHA:2522
Steel Syndrome
Coxa vara, Clinodactyly of the 5th finger, Hip dislocation, Carpal synostosis, Dislocated radial ... OMIM:615155
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Generalized joint laxity, Short stature, Vertebral segmentation d... ORPHA:85198
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... OMIM:156530
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, General... ORPHA:1159
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Jo... OMIM:617952
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... OMIM:113000
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis... OMIM:616294
Symphalangism, Proximal, 1A
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle... OMIM:185800
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Hypochondroplasia
Short toe, Genu varum, Hyperlordosis, Abnormality of the elbow, Spinal canal stenosis, Micromelia... ORPHA:429
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... OMIM:184260
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Abnormal trabecular bone morphology, Narrow pelvis bon... ORPHA:79106
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Anauxetic Dysplasia 2
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Short stature, Pos... OMIM:617396
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Rigid Spine Syndrome
Respiratory insufficiency, Hyperlordosis, Hip contracture, Spinal rigidity, Elbow flexion contrac... ORPHA:97244
Synostoses, Tarsal, Carpal, And Digital
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... OMIM:186400
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scol... ORPHA:1436
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... ORPHA:90650
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Hip dysplasia, ... OMIM:615290
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... OMIM:618469
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... OMIM:277300
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... ORPHA:93284
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Limitation ... ORPHA:1801
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Respiratory insufficiency, Hyperlordosis, Tip-toe gait, Kyphosis, Short stature, Spinal rigidity,... OMIM:617404
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Hypoplastic pubic bone, Coxa vara, Anterior... OMIM:184250
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Pectus excavatum, Ovoid vertebral bodies, Limited elbow extension, Narrow gr... OMIM:608728
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... ORPHA:2634
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Patellar dislocation, Short thumb, Triangular sh... OMIM:618167
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... OMIM:620076
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... OMIM:112500
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Elbow ... OMIM:305620
Parastremmatic Dwarfism
Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o... OMIM:168400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Short stature, Micr... ORPHA:163966
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in ligament tissue, Short 1st metacarpal,... OMIM:135100
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... ORPHA:2635
Mucolipidosis Type Iii
Hyperlordosis, Short stature, Large iliac wing, Hypoplastic inferior ilia, Craniofacial hyperosto... ORPHA:577
Three M Syndrome 1
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Delayed sk... OMIM:273750
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... ORPHA:1837
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... ORPHA:3344
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus excavatum, Later... OMIM:182212
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... OMIM:614078
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short 1st metacarpal, Short stature, Broad middle phalanx of finger, Delayed ossification of carp... OMIM:182255
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic rid... OMIM:309620
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Short neck, Limb undergrowth, Lacunar halos around chondrocyte... OMIM:256050
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Sacral dimple, Finger syndactyly, Radioulnar sy... ORPHA:2633
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Small hypothenar eminenc... ORPHA:2463
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Congenital foot contraction deformities, Flexion contracture, Hip dysplasia, Diffi... ORPHA:363454
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Broad femoral neck, Patellar hypoplasia, Generalized joint laxity, Short femoral neck... OMIM:609325
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Mucopolysaccharidosis Type 4
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... ORPHA:582
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Coxa valga, Sclerotic humeral metaphysis, Irregular capital femoral epiphys... OMIM:609052
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis OMIM:156232
Chromosome 8Q22.1 Duplication Syndrome
Short phalanx of finger, Hallux valgus, Short metacarpal, Short stature, Short thumb, Limitation ... OMIM:151200
Acro-Renal-Mandibular Syndrome
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Hyp... ORPHA:958
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow di... OMIM:224690
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis, Tip-toe gait, Achilles tendon contracture, Limited shoulder mo... ORPHA:62
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Bell-shaped thorax, Iliac crest serration, Metaphyseal cupping, ... OMIM:613320
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Smith-Mccort Dysplasia 2
Short phalanx of finger, Decreased body weight, Flattened femoral head, Short neck, Flattened epi... OMIM:615222
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... ORPHA:2064
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... OMIM:601559
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Mild postnatal growth retardation, Mi... ORPHA:530983
Campomelic Dysplasia
Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Micrognathia, Hip dislocation, Trach... OMIM:114290
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... OMIM:250460
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Elbow dislocation, Hypopla... ORPHA:628
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Avascular necrosis, Abnormality of the fifth metatarsal bone, Flattened metatarsal h... ORPHA:564003
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkerato... OMIM:601812
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Achondroplasia
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... ORPHA:15
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Hyperlordosis, Joint contracture of the hand, Waddling gait, Difficulty walking, Scoliosis, Respi... OMIM:611067
Ruvalcaba Syndrome
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Kyphosis, Short stature, Micro... OMIM:180870
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Posterior rib gap, Postnatal growth... OMIM:611209
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Spinal Muscular Atrophy, Infantile, James Type
Respiratory insufficiency, Hip contracture, Short stature, Scoliosis, Lumbar hyperlordosis OMIM:619042
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Multiple joint contractures, Exertional dyspnea, Gait disturbance, Difficulty walk... ORPHA:352470
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, C... OMIM:253000
Hypochondroplasia
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... OMIM:146000
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... ORPHA:1447
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Flat... OMIM:612350
Multiple Metaphyseal Dysplasia
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Short stature, Ga... ORPHA:93430
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Limb underg... ORPHA:93352
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... ORPHA:957
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... ORPHA:93315
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... ORPHA:2632
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... ORPHA:2114
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... OMIM:309630
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... OMIM:600920
Kagami-Ogata Syndrome
Retrognathia, Bell-shaped thorax, Flexion contracture, Coxa valga, Micrognathia, Hypoplasia of th... OMIM:608149
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Slender build, Small f... OMIM:608154
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... OMIM:186500
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:2790
Familial Anetoderma
Abnormality of tibia morphology, Generalized joint laxity, Lumbar hyperlordosis ORPHA:228277
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Kyphosis, Short stature, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Br... OMIM:616756
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the a... ORPHA:970
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Radial de... OMIM:268310
Ck Syndrome
Retrognathia, Hyperlordosis, Kyphosis, Micrognathia, Abnormal cortical bone morphology, Joint hyp... OMIM:300831
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Short 4th metacarpal, Coxa valga, Abnormality of the ... OMIM:311300
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short palm, Short toe, Accelerated skele... OMIM:250215
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... OMIM:618019
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormally ossified vertebrae, Micrognathia, Abnormal pel... ORPHA:1426
Acromicric Dysplasia
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... OMIM:102370
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Hip dislocation, Pseudoepiphyses of hand bones, Butterfly vertebrae, Short n... OMIM:613330
Mucolipidosis Iii Gamma
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... OMIM:252605
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Genu valgum, Abnormality of the knee, Knee pain, Coxa vara, Short stature, Abnormalit... ORPHA:166002
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Mic... ORPHA:1826
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Restrictive ventilator... OMIM:608681
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... OMIM:607326
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Short stature, Slender long bones with narrow diaphyses, Small for gestational age, Failure to th... ORPHA:50811
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... ORPHA:64755
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Unsteady gait, Ankle flexion contracture, Lumbar hyperlordosis ORPHA:280333
Myopathic Ehlers-Danlos Syndrome
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... ORPHA:536516
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Hyperlord... ORPHA:267
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... OMIM:147750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Ta... OMIM:618845
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... OMIM:313400
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Coxa valga, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscolio... OMIM:616583
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Short femur, Aplasia/hypoplasia involving bones of the extremities, Short neck, Dis... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Lumbar hyperlor... OMIM:602557
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Short femoral neck, Kyphosis, Short stature, Small for gestational age, De... OMIM:618392
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Short stature, Asymmetric radi... OMIM:171480
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Osteogenesis Imperfecta
Flexion contracture, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, Pectus excavat... ORPHA:666
Multiple Epiphyseal Dysplasia Type 4
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... ORPHA:93307
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... OMIM:253010
Gracile Bone Dysplasia
Short stature, Slender long bone, Failure to thrive, Flared metaphysis, Decreased skull ossificat... OMIM:602361
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, 2-3 toe syndactyly, Clinodactyly, Limited elbow extension, Cubitus valgu... OMIM:610313
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Short stature, Micrognathia, Acetabular dysplasia, ... OMIM:616549
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Sc... OMIM:600175
Masa Syndrome
Hyperlordosis, Shuffling gait, Short stature, Kyphosis, Adducted thumb OMIM:303350
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... OMIM:615220
Kbg Syndrome
Vertebral fusion, Short stature, Thoracic kyphosis, Cervical ribs, Single transverse palmar creas... ORPHA:2332
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Short stature, Vertebral segm... ORPHA:2311
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Short stature, Hip osteoarthritis, Osteochondritis dissecans, Accelerated skeletal maturation, Br... OMIM:165800
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Short thorax, Short stature, Hip dislocation, Joint laxity, Clinodactyly of the 5th f... OMIM:619451
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu valgum, Shor... OMIM:250420
Winchester Syndrome
Kyphosis, Arthropathy, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis... OMIM:277950
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... ORPHA:2777
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Micromelia, Limitation of joint mobility, Severe short sta... ORPHA:168555
Joubert Syndrome 7
Neonatal breathing dysregulation, Genu valgum, Episodic tachypnea, Ataxia, Scoliosis, Central apn... OMIM:611560
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... OMIM:190351
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Accelerated skeletal maturation, Disproportionate... ORPHA:1354
Nemaline Myopathy 2
Polyhydramnios, Hyperlordosis, Flexion contracture, Inability to walk, Spinal rigidity, Gait dist... OMIM:256030
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... ORPHA:79345
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... ORPHA:168549
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abno... ORPHA:2511
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... ORPHA:3098
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip disloc... OMIM:200980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Martsolf Syndrome 1
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Metatarsus adductus, Pectus ex... OMIM:212720
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Hallux valgus, Facet joint arthrosis, Micrognathi... OMIM:618000
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Delayed closure of the anterior fontanelle, Flexion contracture, Limited elb... OMIM:614008
Dystonia With Ringbinden
Hyperlordosis, Gait disturbance OMIM:224550
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Lower limb undergrowth, Scoliosis, Abnormality of femur morphology, Abnormal epiph... ORPHA:2310
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Short phalanx of finger, Ulnar deviation of the hand or of fingers of th... OMIM:114300
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of the knee, Abnormality of the humerus, Synostosis of carpal bones, Abn... ORPHA:2496
Radial Hemimelia
Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th... ORPHA:93321
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Finger j... ORPHA:93308
Desbuquois Dysplasia 2
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Hip dislocation, Pect... OMIM:615777
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, D... OMIM:615349
Three M Syndrome 3
Hyperlordosis, Short thorax, Increased vertebral height, Decreased body weight, Short stature, Sm... OMIM:614205
Acromesomelic Dysplasia 1
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... OMIM:602875
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Spinal rigidity, Gait disturbance,... ORPHA:157973
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Thanatophoric Dysplasia, Type Ii
Respiratory insufficiency, Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short ribs... OMIM:187601
Acrodysostosis
Short toe, Mandibular prognathia, Short metacarpal, Short stature, Hypoplasia of the radius, Dela... ORPHA:950
Acromesomelic Dysplasia 4
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... OMIM:619636
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... OMIM:271630
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Respiratory... OMIM:300718
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... OMIM:178110
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Duchenne And Becker Muscular Dystrophy
Hyperlordosis, Slender long bone, Scoliosis, Joint stiffness, Reduced bone mineral density ORPHA:262
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Loss of ambulation, Steppage gait, Unsteady gait, Lumbar hyperlordosis OMIM:617054
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Thoracic hypoplasia, Coxa vara, Short femoral neck, Rhizomelia, Short statu... OMIM:602271
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb OMIM:618453
Anauxetic Dysplasia 1
Elbow flexion contracture, Atlantoaxial dislocation, Short neck, Limited elbow extension, Short p... OMIM:607095
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, ... OMIM:608940
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Micrognathia, Short neck, Limb undergrowth, Fibular bowing, Enlarged joi... ORPHA:1427
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... ORPHA:1798
Ring Chromosome 21 Syndrome
Small hand, Short stature, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Synd... ORPHA:1445
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Finger joint hypermobility, Butterfly vertebrae, Pectus excavatum, Limited el... OMIM:618870
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Rhizo-meso-acromelic limb shor... OMIM:611717
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... OMIM:605282
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:214300
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short stature, Short long bone, ... ORPHA:93296
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, 11 pairs of ribs, Decreased body weight, Short metacarpal, Broad phalanx... OMIM:618724
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalanges of the hand... OMIM:226980
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Hallermann-Streiff Syndrome
Hyperlordosis, Dental malocclusion, Natal tooth, Small for gestational age, Slender long bone, Mi... OMIM:234100
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Sagittal craniosynostosis, Distal symphalangism of hands, 3-4 finger syndacty... OMIM:185900
Pycnodysostosis
Delayed cranial suture closure, Increased bone mineral density, Micrognathia, Hypoplastic iliac w... ORPHA:763
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... OMIM:127200
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... OMIM:618728
Maternal Uniparental Disomy Of Chromosome 9
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Failure to th... ORPHA:96183
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Delayed skeletal maturation, Tal... OMIM:255800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Verheij Syndrome
Vertebral fusion, Short 5th finger, Short stature, Clinodactyly, Hip dislocation, Short neck, Sco... OMIM:615583
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Undulate ribs, Short long bone, Short ribs, Short femur, Femoral bowing, Wid... OMIM:618188
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ch... OMIM:184100
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Finger syndactyly, Vertebral segmentation defect, Synosto... ORPHA:1323
Gnathodiaphyseal Dysplasia
Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteope... ORPHA:53697
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... OMIM:313420
Atypical Rett Syndrome
Gait ataxia, Small hand, Kyphosis, Episodic tachypnea, Inability to walk, Gait disturbance, Loss ... ORPHA:3095
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome
Hyperlordosis, Bowing of the long bones ORPHA:2292
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Accelerated skeletal maturation, Generali... ORPHA:1423
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Micrognathia, Short neck, Abnormal clavicle morphology, Decreased skull... ORPHA:93267
Pyle Disease
Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti... OMIM:265900
Thiemann Disease
Short phalanx of finger, Broad phalanx, Avascular necrosis OMIM:165700
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Ivic Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... ORPHA:2307
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Short statur... ORPHA:166272
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... ORPHA:93359
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Accelerated skeletal m... OMIM:617190
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Fla... OMIM:190350
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Rhizomelia, Short finger, Irregular epiphyses, Joint laxity, Barrel-shaped... OMIM:612813
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... OMIM:184460
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Rhizomelia, Short long bone, Small for gestational age, Short stature, Multi... OMIM:616229
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... OMIM:618961
Severe Congenital Nemaline Myopathy
Flexion contracture, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Art... ORPHA:171430
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol... ORPHA:2631
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... OMIM:208230
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occul... ORPHA:177
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Delayed skeletal maturation... OMIM:617974
Multiple Osteochondromas
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Genu valgum, Abnormality of the knee, A... ORPHA:321
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Scoliosis, Short stature, Osteoporosis ORPHA:408
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Short stature, Large tarsal b... OMIM:215150
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Finger syndactyly, Small hand, Short ... ORPHA:915
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... ORPHA:93360
Nemaline Myopathy 7
Knee flexion contracture, Lumbar hyperlordosis, Gait disturbance, Waddling gait, Kyphoscoliosis, ... OMIM:610687
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Ollier Disease
Multiple enchondromatosis, Micromelia, Osteolysis, Platyspondyly, Abnormal metaphysis morphology,... ORPHA:296
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Asymmetric short stature, Hemihypotroph... OMIM:108450
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Short neck... OMIM:269250
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Retrognathia, Kyphosis, Micrognathia, Camptodactyly, Short neck, Neonatal death... OMIM:618393
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphol... ORPHA:2167
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis, Gait disturbance OMIM:614198
Spondylocarpotarsal Synostosis Syndrome
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... OMIM:272460
Pseudodiastrophic Dysplasia
Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, F... OMIM:264180
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thoracic hypoplasia, ... OMIM:100800
Congenital Myopathy 2A, Typical, Autosomal Dominant
Respiratory insufficiency, Polyhydramnios, Hyperlordosis, Spinal rigidity, Waddling gait, Scolios... OMIM:161800
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Reduced vital capacity OMIM:607088
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Short stature, Micrognathia, Clinodactyly of the 5th ... ORPHA:1388
Ck Syndrome
Microretrognathia, Joint hypermobility, Kyphoscoliosis, Long toe, Slender build, Long fingers, Lu... ORPHA:251383
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Hyperplasia of the maxilla, Thoracic k... ORPHA:313892
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... OMIM:249700
Grant Syndrome
Joint dislocation, Short stature, Narrow chest, Micrognathia, Abnormal cortical bone morphology, ... ORPHA:2097
Cog1-Cdg
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Micrognathia, Flat acetab... ORPHA:263508
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... ORPHA:968
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... OMIM:185700
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Weight loss, Rhizomelia, Short r... ORPHA:1842
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Vertebral seg... OMIM:613686
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... OMIM:226900
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:600081
Fanconi Anemia, Complementation Group I
Absent thumb, Decreased body weight, Short 1st metacarpal, Short stature, Hypoplasia of the radiu... OMIM:609053
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Ruvalcaba Syndrome
Cone-shaped epiphysis, Small hand, Short metacarpal, Kyphosis, Abnormality of the elbow, Synostos... ORPHA:3121
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp... ORPHA:2990
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Growth de... OMIM:244600
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Wt Limb-Blood Syndrome
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Retrognathia, Short thumb, Micro... OMIM:194350
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Short stature, Broad thumb, Type B brachydactyly, Short distal phalanx o... ORPHA:1471
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Hyperlordosis, Finger syndactyly, Hip dysplasi... ORPHA:710
Cartilage-Hair Hypoplasia
Abnormal distal phalanx morphology of finger, Short neck, Delayed skeletal maturation, Metaphysea... ORPHA:175
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Short phalanx of finger, Shoulder dislocation, Flexion contracture, Dela... OMIM:143095
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,... OMIM:615198
Desbuquois Syndrome
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Coxa vara, Small hand, Patellar dislocat... ORPHA:1425
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Abnormal rib morphology, Fibrous dysp... ORPHA:249
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short stature, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyl... OMIM:617405
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Short stature, Micrognathia, Hip dislocation, Narrow greater sciatic notch, Hypoplast... OMIM:602471
Myopathy, Centronuclear, 2
Hyperlordosis, Flexion contracture, Kyphosis, Oligohydramnios, Waddling gait, Scoliosis, Scapular... OMIM:255200
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Intrauterine growth retardation, Brac... OMIM:234250
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Platyspondyly, Micromelia, Abnormal epiphysis morphology, Proportionate short statu... ORPHA:93283
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizomelia, Brach... ORPHA:2831
Spastic Paraplegia 87, Autosomal Recessive
Spastic gait, Lumbar hyperlordosis OMIM:619966
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg... OMIM:187760
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...