Disproportionate-short-limbed-short-stature: Causes & Reasons

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Possible Causes for disproportionate short limbed short stature

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

short-limb short stature ; Flat capital femoral epiphysis ; Frontal bossing ; Hypertelorism ; Intellectual disability ; Intellectual disability, progressive ; Kyphoscoliosis [mousephenotype.org]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Flat capital femoral epiphysis Flat end part of innermost thighbone [rarediseases.info.nih.gov]

Autosomal recessive inheritance 0000007 Biconcave vertebral bodies 0004586 Coxa vara 0002812 Decreased circulating IgG level 0004315 Delayed ossification of carpal bones 0001216 Disproportionate [rarediseases.info.nih.gov]

Thoracomelic Dysplasia

short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873 16 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826 17 flat face 59 [malacards.org]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more [rarediseases.info.nih.gov]

short-limb short stature Hypoplastic ilia Severe short stature Hyperlordosis Limb undergrowth Irregular capital femoral epiphysis Abnormal facial shape High myopia Severe [mendelian.co]

Schneckenbecken Dysplasia

Showing of 33 80%-99% of people have these symptoms Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 [rarediseases.info.nih.gov]

Chondrodystrophy

It’s distinguished by a moderate to severe form of disproportionate short-limb short stature. [en.wikipedia.org]

Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature. [ncbi.nlm.nih.gov]

Notice the disproportionate short-limb short stature. [doi.org]

Leri-Weill Dyschondrosteosis

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Dorsal subluxation of ulna 0006459 Exostoses Formation of new noncancerous [rarediseases.info.nih.gov]

Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diaphyseal thickening Thickening of shaft or central part of long bones 0005019 Disproportionate [rarediseases.info.nih.gov]

Acrodysostosis

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Elevated circulating parathyroid hormone level 0003165 Fair hair Blond [rarediseases.info.nih.gov]

Dental malocclusion Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ] 0000689 Dislocated radial head 0003083 Disproportionate [rarediseases.info.nih.gov]

Pseudoachondroplasia

A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus [ncbi.nlm.nih.gov]

This condition is inherited in an autosomal dominant pattern. 0002750 Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [rarediseases.info.nih.gov]

Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature. [ncbi.nlm.nih.gov]

Cystitis

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the [ncbi.nlm.nih.gov]

Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs [ncbi.nlm.nih.gov]

Anauxetic Dysplasia

Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally. [ncbi.nlm.nih.gov]

People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. [elbiruniblogspotcom.blogspot.com]

Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence [ncbi.nlm.nih.gov]

Thanatophoric Dysplasia

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism Last updated: 6/5/2014 Thanatophoric dysplasia is considered an autosomal dominant disorder [rarediseases.info.nih.gov]

While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family. 0005280 Disproportionate [rarediseases.info.nih.gov]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff [malacards.org]

short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay [orpha.net]

Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. [ncbi.nlm.nih.gov]

Facioauriculoradial Dysplasia

[…] distal phalanx of toe Absent phalangeal crease High palate High, narrow palate Limb undergrowth Tall stature Hypermetropia Coronal craniosynostosis Disproportionate short-limb [mendelian.co]

[…] undergrowth Hypoplastic toenails Failure to thrive in infancy Increased susceptibility to fractures Reduced number of teeth Disproportionate short-limb short stature Plagiocephaly [mendelian.co]

short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal [mendelian.co]

Platyspondyly

[…] femoral neck Radial deviation of finger Abnormality of the metaphysis Hypermetropia Clinodactyly Upper limb undergrowth Hypoplastic iliac wing Disproportionate short stature [mendelian.co]

short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. [mendelian.co]

Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature [ncbi.nlm.nih.gov]

Cystocele

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the [ncbi.nlm.nih.gov]

Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs [ncbi.nlm.nih.gov]

Skeletal Dysplasia

short-limb short stature. [en.wikipedia.org]

Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature. [ncbi.nlm.nih.gov]

Notice the disproportionate short-limb short stature. [doi.org]

Greenberg Dysplasia

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Epiphyseal stippling Speckled calcifications in end part of bone 0010655 [rarediseases.info.nih.gov]

short stature. [nature.com]

Achondroplasia

Achondroplasia is a genetic (inherited) condition that results in abnormally short stature and is the most common cause of short stature with disproportionately short limbs [medicinenet.com]

Achondroplasia is the most common type of short limb (or disproportionately short stature). [gosh.nhs.uk]

Achondroplasia is the cause of the most common type of dwarfism (short-limbed disproportionate dwarfism) Achondroplasia is the most common cause of short stature with disproportionately [medicinenet.com]

Dyschondrosteosis-Nephritis Syndrome

Isolated Congenital Sclerocornea

short-limb short stature Short thorax Abnormality of cardiovascular system morphology Femoral bowing Downslanted palpebral fissures Dysphagia Thick eyebrow Pulmonic stenosis [mendelian.co]

Decreased antibody level in blood Joint hypermobility Coloboma Abnormality of the kidney Pectus excavatum Basal cell carcinoma Hyperreflexia Behavioral abnormality Arrhythmia Disproportionate [mendelian.co]

Lumbar Spinal Stenosis

The clinical consequence is a disproportionate short stature with short limbs and cranial and spine abnormalities1,2. [nature.com]

Familial Short Stature

Genetic skeletal dysplasias also known as osteochondrodysplasia usually manifest in short-limbed disproportionate short stature. [3] [4] When the cause is unknown, it is called [en.wikipedia.org]

Disproportionate Short Stature ( top ) Disproportionate short stature, commonly referred to as dwarfism, can manifest itself as short-limbed dwarfism or short-trunk dwarfism [hgfound.org]

In disproportionate short stature (DSS), the limbs may be small compared with the trunk. [medicalnewstoday.com]

Postaxial Oligodactyly, Tetramelic

[…] hallux Radial bowing Thin ribs Aplasia/hypoplasia of the extremities Slender long bone Hypokinesia Hyperostosis Disproportionate short-limb short stature Flared metaphysis [mendelian.co]

Unsteady gait Dolichocephaly Hypocalcemia Aniridia Cloverleaf skull Lethal skeletal dysplasia Decreased skull ossification Asplenia Severe intrauterine growth retardation Short [mendelian.co]

Coxa Vara

The limbs are disproportionately short compared to the trunks, with upper limbs affected more than lower limbs. [scielo.org.za]

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

Discussion Affected individuals usually have mildly short stature; their length at birth is usually normal, but decreases to around the second centile by the age of 4-8 years [scielo.org.za]

Non-Syndromic Ocular Stickler Syndrome Type 1

A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis [abcam.com]

Isolated Congenital Alacrima

[…] palm Malabsorption Narrow chest Bronchiectasis Sparse and thin eyebrow Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Abnormality [mendelian.co]

short-limb short stature Femoral bowing Abnormality of chromosome stability Short thorax Limited elbow extension Squamous cell carcinoma Diaphyseal thickening Basal cell [mendelian.co]

[…] the ribs Abnormality of retinal pigmentation Convex nasal ridge Decreased antibody level in blood Postural instability Small hand Neutropenia Leukemia Joint hypermobility Short [mendelian.co]

Ichthyosis and Male Hypogonadism

short-limb short stature Nonimmune hydrops fetalis Pulmonary insufficiency Multiple prenatal fractures Broad long bones Abnormality of calvarial morphology Pachygyria Microphthalmia [mendelian.co]

[…] hypertrophy Convex nasal ridge Blue sclerae Coarctation of aorta Lens luxation Large fontanelles Wormian bones Abnormality of pelvic girdle bone morphology Tibial bowing Disproportionate [mendelian.co]

Myelocerebellar Disorder

short-limb short stature Short femoral neck Tibial bowing Chronic otitis media Overfolded helix Spondyloepiphyseal dysplasia Anal stenosis Tinnitus Pleural effusion Arthralgia [mendelian.co]

Neuroblastoma Deep philtrum Spinal canal stenosis Midface retrusion Megalencephaly Redundant skin Hip contracture Back pain Limited elbow extension Genu varum Cubitus valgus Disproportionate [mendelian.co]

Kyphoscoliosis

short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia [mendelian.co]

[…] diaphyses Anasarca Calvarial hyperostosis Thrombocytosis Irritability Restlessness Cellulitis Tibial bowing Increased antibody level in blood Leukocytosis Bowing of the legs Disproportionate [mendelian.co]

Metaphyseal Chondrodysplasia, Spahr Type

short stature, short limbs, and bilateral genu varum that were apparent after 2 years of age. [scipers.com]

short stature, short limbs,and bilateral genu varum that were apparent after 2 years ofage. [docslide.net]

Lebanon2Service dOrthopedie, Hotel-Dieu de France, Beirut, LebanonReceived 29 January 2008; Accepted 9 April 2008We report a consanguineous Lebanese family where sixindividuals had disproportionate [documents.tips]

X-Linked Spondyloepimetaphyseal Dysplasia

short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. [malacards.org]

stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. [rarediseases.info.nih.gov]

[…] diseases and orphan drugs.Orpha Number: 93349Disease definitionX-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate [malacards.org]