Shortened Long Bone: Causes & Reasons

Possible Causes for Shortened Long Bone

After birth, infants with the disorder typically have apnea, seizures, and shortened long bones. [everydayhealth.com]

Severe forms are characterized by widespread failure of ossification of the skeleton and marked shortening of long bones. [accessanesthesiology.mhmedical.com]

At 34 weeks, however, a small chest and shortening of distal long bones came to attention. The neonate delivered at 41 weeks showed serum ALP of <5U/L. [ncbi.nlm.nih.gov]

Pseudohypoparathyroidism

4th long bone of hand 0010044 Short 5th metacarpal Shortened 5th long bone of hand 0010047 Short fifth metatarsal Short 5th long bone of foot 0004704 Short neck Decreased [rarediseases.info.nih.gov]

X-rays will show shortening of the fourth metacarpal (long bone of the hand) and advanced bone age. [rarediseases.info.nih.gov]

[…] mineral density Low solidness and mass of the bones 0004349 Sensorineural hearing impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord [rarediseases.info.nih.gov]

Russell-Silver Syndrome

[…] of the long bones, but is not considered a classic skeletal dysplasia. [radiologykey.com]

Fetal biometric parameters may show shortened fetal long bones. [radiopaedia.org]

Fifth finger clinodactyly associated with very early onset growth restriction, shortened long bones and delay in endochondral ossification, with no other etiology including [radiologykey.com]

Mesomelic Dysplasia Type Langer

Clinical description Langer mesomelic dysplasia (LMD) is a more severe form of Léri-Weill dyschondrosteosis (LWD) and presents at birth with a severely shortened long bones [rarediseases.info.nih.gov]

Signs and symptoms [ edit ] Clinically and radiologically the disease is characterized by severe shortening of long bones (limb's both proximal and median segments are affected [en.wikipedia.org]

Langer mesomelic dysplasia ( LMD ) is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature. [en.wikipedia.org]

Spondyloperipheral Dysplasia

Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower [ghr.nlm.nih.gov]

This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) [ghr.nlm.nih.gov]

Rhizomelic Chondrodysplasia Punctata Type 1

These individuals have shortening in their metacarpal bones and shortening of long bones- dependent on which disease. [physio-pedia.com]

AB - Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. [jhu.pure.elsevier.com]

[…] of the proximal long bones, cataracts, periarticular calcifications, multiple joint contractures, and psychomotor retardation. [ncbi.nlm.nih.gov]

Rhizomelic Chondrodysplasia Punctata Type 2

These individuals have shortening in their metacarpal bones and shortening of long bones- dependent on which disease. [physio-pedia.com]

It is unclear how these alterations cause the shortening of the long bones, intellectual disability, and other features of RCDP2. [ivami.com]

Affected patients have characteristic features including shortening of the proximal long bones, epiphyseal stippling, bilateral cataracts, growth and developmental delays. [jhu.pure.elsevier.com]

Rhizomelic Chondrodysplasia Punctata Type 3

These individuals have shortening in their metacarpal bones and shortening of long bones- dependent on which disease. [physio-pedia.com]

It is unclear how these alterations cause the shortening of the long bones, intellectual disability, and other features of RCDP2. [ivami.com]

[…] of proximal long bones, distinctive facial features, intellectual disability, and recurrent respiratory problems. [secure.ssa.gov]

Osteogenesis Imperfecta Type 2

Macroscopic and radiologic examinations show deformed upper and lower extremities with shortened long bones with multiple fractures. [path.upmc.edu]

CONCLUSION: Long bone shortening is not a sufficient and accurate sign for early sonographic differential diagnosis between TD and OI-2. [ncbi.nlm.nih.gov]

This disorder presents with multiple (sometimes almost innumerable) fractures in the ribs and long bones, with consequent malformation of the bones. [path.upmc.edu]

Thanatophoric Dysplasia

Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia. [ncbi.nlm.nih.gov]

Postmortem radiographs revealed short ribs, flat vertebral bodies (platyspondyly), hypoplastic iliac bones, marked shortening of long bones including short and mild bowing [ncbi.nlm.nih.gov]

The diagnosis was made on ultrasound examination at 21 weeks of gestation, when shortened long bones, cloverleaf skull, and narrow thorax were observed. [journals.sagepub.com]

Chondrodysplasia Punctata

Fetal biometry showed shortened long bones. [ncbi.nlm.nih.gov]

Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. [ncbi.nlm.nih.gov]

brachydactyly, shortened long bones and epiphyseal stippling. [ncbi.nlm.nih.gov]

Autosomal-Recessive Robinow Syndrome

The autosomal recessive symptoms include shortening of long bones, abnormally short fingers and toes, abnormal curvature of the spine, missing ribs, short stature, upturned [wiki.ggc.edu]

The first type is Autosomal recessive Robinow syndrome which is characterized by skeletal abnormalties including the shortening of the long bones in the arms and legs, particularly [rarediseases411.blogspot.com]

Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally [familydiagnosis.com]

Spondyloepiphyseal Dysplasia Type Cantú

0005069 Short long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen 0010306 [rarediseases.info.nih.gov]

[…] short long bones limited supination limited pronation Skeletal Feet: brachydactyly short feet brachymetatarsals Skeletal Spine: cuboid-shaped vertebral bodies mild platyspondyly [malacards.org]

long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Short toe Short toes Stubby toes [ more ] 0001831 Single interphalangeal crease [rarediseases.info.nih.gov]

Osteoglophonic Dwarfism

Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. [diseaseinfosearch.org]

long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [rarediseases.info.nih.gov]

[…] and bowed long bones, clubfoot Neonatal death possible; most have normal life span TRIP11 Achondrogenesis type 1A AR Severe micromelia, thoracic hypoplasia, hydropic fetal [arupconsult.com]

Saldino-Noonan Syndrome

Jeune syndrome Ellis–van Creveld syndrome SRPS type III Long bones Moderately shortened Shortened (rhizomelia) Severely shortened Ribs Short, horizontal Extremely short, horizontal [fetalultrasound.com]

long bones Widened metaphyses Longitudinal metaphyseal spurs Vertebral abnormalities Adapted from reference 6. [fetalultrasound.com]

The 19-week anatomy scan initially raised concern for skeletal dysplasia, demonstrating shortened long bones and polyhydramnios, without mention of extra digits or situs inversus [degruyter.com]

Kienbock Disease

In this procedure, the radius (the lateral long bone) is shortened by a given length, usually between 2 and 5 mm, to relieve the pressure on the dying lunate. [en.wikipedia.org]

Radial Shortening Osteotomy If your surgeon suggests a radial shortening osteotomy, then the goal is to shorten the bone that is too long. [foreverfitptw.com]

In cases with such a difference, radial shortening is commonly performed. [en.wikipedia.org]

Oculootoradial Syndrome

1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 | Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging [rarediseases.info.nih.gov]

1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 | Last updated: 2/1/2021 Diagnosis Diagnosis Making a diagnosis for a genetic or rare disease can [rarediseases.info.nih.gov]

[…] interphalangeal movement Limited movement of hinge joints 0006064 Limited wrist movement Limited movement of the wrist 0006248 Pectoralis major hypoplasia 0008953 Short 1st metacarpal Shortened [rarediseases.info.nih.gov]

Asphyxiating Thoracic Dysplasia

Other clinical features that can be apparent at birth include too many fingers and/or toes (polydactyly), shortened long bones of the arms and legs, insufficient growth of [rarediseases.org]

X-ray 2: pelvis a. p. : typical three point configuration of the lower edge X-ray 3: baby image: long bones (Femur/Humerus) appear shortened in comparison to the long thorax [kinderradiologie-online.de]

Severe Short Stature

We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs [ncbi.nlm.nih.gov]

The radiological features included moth-eaten severely shortened long bones and ectopic calcifications of long bones, vertebral column, ribs, pelvis, larynx, trachea. [ncbi.nlm.nih.gov]

long bones on ultrasound (≤ 10(th) percentile), either alone or associated with other bone abnormalities. [ncbi.nlm.nih.gov]

Robinow Syndrome

long bones, adactyly, and ventricular septal defect. [ncbi.nlm.nih.gov]

Shortening of all long bones (especially tibia and radius). Modeling deformity with widened diaphysis. Mild to moderate bowing. Hypoplasia of the fibula. [fetalultrasound.com]

The scan revealed several dysmorphic facial features; for example, an abnormal short and wide nose, shortening of the long bones (Z‐score −5 to −6), especially ulnae and radius [onlinelibrary.wiley.com]

Ellis-Van Creveld Syndrome

Imaging Skeletal survey in these patients reveals abnormalities such as short ribs, narrow thorax, shortened long bones, and proximal phalanges that are longer than the distal [symptoma.com]

[…] of the long bones, malposition of the toes, and hypoplastic nails. [ncbi.nlm.nih.gov]

The most common clinical feature is shortened long bones of the limbs also called as acromesomelic dwarfism [1-7]. [clinmedjournals.org]

Autosomal Dominant Chondrodysplasia Punctata

These individuals have shortening in their metacarpal bones and shortening of long bones- dependent on which disease. [physio-pedia.com]

Rhizomelic chondrodysplasia punctata is characterized by shortened long bones in the arms and legs, abnormalities of the spine, stippled or dotted appearance to the cartilage [encyclopedia.com]

It is an autosomal recessive disorder with distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific [jcnonweb.com]

Brachydactyly

bone Long bone shortening 0003026 Short middle phalanx of finger Short middle bone of finger 0005819 Syndactyly Webbed fingers or toes 0001159 Thoracolumbar scoliosis 0002944 [rarediseases.info.nih.gov]

[…] metacarpal Shortened 5th long bone of hand 0010047 Short fifth metatarsal Short 5th long bone of foot 0004704 Short thumb Short thumbs Small thumbs [ more ] 0009778 Showing [rarediseases.info.nih.gov]

[…] of hand 0001204 Proximal symphalangism of hands Fused innermost hinge joints 0006152 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Percent of people who have [rarediseases.info.nih.gov]

Pelger-Huet Anomaly

3rd long bone of hand 0010041 Short 4th metacarpal Shortened 4th long bone of hand 0010044 Short 5th metacarpal Shortened 5th long bone of hand 0010047 Strabismus Cross-eyed [rarediseases.info.nih.gov]

Squint Squint eyes [ more ] 0000486 Thrombocytopenia Low platelet count 0001873 Umbilical hernia 0001537 Upper limb undergrowth Short arms Shortening of the arms [ more ] [rarediseases.info.nih.gov]

[…] neutrophil count Low neutrophil count [ more ] 0001875 Pes cavus High-arched foot 0001761 Recurrent otitis media Recurrent middle ear infection 0000403 Short 3rd metacarpal Shortened [rarediseases.info.nih.gov]

Hypochondroplasia

The criteria for hypochondroplasia were disproportionate short stature and radiological evidence of shortened long bones and decrease or absence of normal increase in interpedicular [ncbi.nlm.nih.gov]

Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and [ncbi.nlm.nih.gov]

[…] squared, shortened ilia. [ncbi.nlm.nih.gov]

Leri-Weill Dyschondrosteosis

Short stature is present from birth due to shortening of the long bones in the legs. [rareguru.com]

[…] is present from birth due to shortening of the long bones in the legs. madelung deformity typically develops during mid-to-late childhood and may progress during puberty. [selfdecode.com]

The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly [ncbi.nlm.nih.gov]

Geleophysic Dysplasia

Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies. [orpha.net]

bone Long bone shortening 0003026 Short metacarpals with rounded proximal ends Short long bone of hand with rounded innermost ends 0006161 Short nose Decreased length of [rarediseases.info.nih.gov]

Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. [diseaseinfosearch.org]

Autosomal Dominant Myopia - Midfacial Retrusion - Sensorineural Hearing Loss - Rhizomelic Dysplasia

[…] dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency [orpha.net]

Search Search for a rare disease Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Disease definition A rare primary bone [orpha.net]

Hydrocephalus - Obesity - Hypogonadism

4th long bone of hand 0010044 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these [rarediseases.info.nih.gov]

[ more ] 0001256 Low posterior hairline Low hairline at back of neck 0002162 Mitral valve prolapse 0001634 Obesity Having too much body fat 0001513 Short 4th metacarpal Shortened [rarediseases.info.nih.gov]

Brachydactyly Type B2

[…] of the hand [ more ] 0009835 Short distal phalanx of finger Short outermost finger bone 0009882 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened [rarediseases.info.nih.gov]