Disproportionate Short-Limbed Short Stature: Causes & Reasons

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

[…] long bone Short ribs Snail-like ilia Thoracic hypoplasia Umbilical hernia Growth abnormality Disproportionate short-limb short stature IMPORTANT NOTE: NIH does not independently [ncbi.nlm.nih.gov]

The signs and symptoms of Schneckenbecken Dysplasia may include the following: Very frequently present symptoms in 80-99% of the cases: Disproportionate short-limb short stature [dovemed.com]

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]

Leri-Weill Dyschondrosteosis

short-limb short stature And another 27 symptoms. [mendelian.co]

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]

[…] bridge Brachydactyly Wide nasal bridge Clinodactyly of the 5th finger Joint stiffness Genu valgum Micromelia Abnormality of the metaphysis Abnormality of epiphysis morphology Disproportionate [mendelian.co]

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]

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]

Typically, at approximately two years of age, the rate of growth falls below the standard growth curve, causing a moderately severe form of disproportionate short‑limb short [spandidos-publications.com]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Irregular carpal bones 0004236 Micromelia Smaller or shorter than typical [rarediseases.info.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]

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]

Chondrodystrophy

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

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

Anthropometric measurements are of particular significance for determining the type of disproportionate short-stature, short-limb versus short-trunk. [doi.org]

Thanatophoric Dysplasia

short-limb short stature Flat face Increased nuchal translucency Intellectual disability, profound Macrocephaly Micromelia Muscular hypotonia Narrow chest Platyspondyly Pulmonary [dovemed.com]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Flat face Flat facial shape 0012368 Increased nuchal translucency 0010880 [rarediseases.info.nih.gov]

[…] formed scapulae Small face Small foramen magnum Wide-cupped costochondral junctions Very frequently present symptoms in 80-99% of the cases: Abnormality of the metaphysis Disproportionate [dovemed.com]

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]

Achondrogenesis Type 2

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Disproportionate short-trunk short stature Disproportionate short-trunked [rarediseases.info.nih.gov]

Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate [rarediseases.info.nih.gov]

Rhizomelic Chondrodysplasia Punctata Type 3

short-limb short stature Failure to thrive IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information [ncbi.nlm.nih.gov]

Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. [emedicine.medscape.com]

[from OMIM] Show allHide all Abnormality of limbs Rhizomelia Short femur Short humerus Abnormality of the musculoskeletal system Epiphyseal stippling Growth abnormality Disproportionate [ncbi.nlm.nih.gov]

Spondylometaphyseal Dysplasia Type East African

Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening [familydiagnosis.com]

Disproportionate short stature 0003498 Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Genu varum Outward [rarediseases.info.nih.gov]

[…] long bone Ovoid vertebral bodies Disproportionate short stature Sporadic Rounded epiphyses Disproportionate short-limb short stature Symptoms Read more about symptoms of [familydiagnosis.com]

Thanatophoric Dysplasia Type 1

short-limb short stature Lethal short-limbed short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to [ncbi.nlm.nih.gov]

[…] matter heterotopia Hydrocephalus Intellectual disability, profound Abnormality of the respiratory system Neonatal respiratory distress Pulmonary hypoplasia Growth abnormality Disproportionate [ncbi.nlm.nih.gov]

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

Disproportionate short-limb short stature MedGen UID: 342370 •Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an [ncbi.nlm.nih.gov]

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature [ncbi.nlm.nih.gov]

short-limb short stature GTR MeSH Orphanet CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar CROGVSpondyloepimetaphyseal dysplasia-short limb-abnormal calcification [ncbi.nlm.nih.gov]

Maroteaux-Stanescu-Cousin Syndrome

Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb dwarfism, Brachymelic dwarfism [more [rarediseases.oscar.ncsu.edu]

Skeletal examination confirmed disproportionate short stature with short limbs, narrow thorax, thoraco-lumber kyphosis, lordosis, and severe joints hyperextensibility. [karger.com]

] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Desbuquois Dysplasia

Medical Term Other Names Description Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb [rarediseases.oscar.ncsu.edu]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Glaucoma 0000501 Joint hyperflexibility Joints move beyond expected [rarediseases.info.nih.gov]

[…] dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Desbuquois Dysplasia Type 2

Skeletal examination confirmed disproportionate short stature with short limbs, narrow thorax, thoraco-lumber kyphosis, lordosis, and severe joints hyperextensibility. [karger.com]

[…] dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Spondyloepimetaphyseal Dysplasia Type Matrilin-3

short-limb short stature : Summary A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. 1, 2 ... ... [familydiagnosis.com]

[ more ] 0009826 30%-79% of people have these symptoms Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 [rarediseases.info.nih.gov]

stature Metaphyseal widening Disproportionate short-limb short stature Arthritis Limited elbow extension Spondyloepimetaphyseal dysplasia Brachydactyly Short femoral neck [mendelian.co]

Spondyloepimetaphyseal Dysplasia Type Shohat

short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly [orpha.net]

short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe [malacards.org]

[…] for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate [orpha.net]

Acromesomelic Chondrodysplasia with Genital Anomalies

[…] fingers or toes 0001156 Broad foot Broad feet Wide foot [ more ] 0001769 Carpal synostosis 0009702 Disproportionate short-limb short stature Short limb dwarfism, disproportionate [rarediseases.info.nih.gov]

short-limb short stature ; Fibular aplasia ; Hypergonadotropic hypogonadism ; Hypoplasia of the ulna ; Hypoplasia of the uterus ; Primary amenorrhea ; Radial deviation of [mousephenotype.org]

[…] thorax Growth abnormality Somatic mutation Hamartoma Abnormality of the hip bone Disproportionate short-limb short stature Femoral bowing Lipoma Melanocytic nevus Goiter [mendelian.co]

Desbuquois Dysplasia Type 1

[…] dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Chromosome 4q32.1-q32.2 Triplication Syndrome

stature Waddling gait Protruding ear Failure to thrive Bone pain Disproportionate short-limb short stature Dental crowding Osteochondritis Dissecans Milia Hypodontia Flat [mendelian.co]

[…] excavatum Abnormality of the skeletal system Tics Genu varum Anteverted nares Midface retrusion Abnormality of the dentition Abnormality of the hip bone Recurrent fractures Mild short [mendelian.co]

Platyspondylic Lethal Skeletal Dysplasia Type Torrance

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

[…] toe Oligodontia Abnormality of the metacarpal bones Genu varum Neonatal short-limb short stature Flared metaphysis Short thorax Disproportionate short-limb short stature [mendelian.co]

[…] of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Abnormality of the carpal bones 0001191 Disproportionate [rarediseases.info.nih.gov]

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

short-limb short stature ; Ectopic anus ; Epicanthus ; Esophageal atresia ; Facial cleft ; Frontal bossing ; Hydronephrosis ; Hydrops fetalis ; Hypoplasia of penis ; Lethal [mousephenotype.org]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Lethal skeletal dysplasia Lethal dwarfism identifiable at birth 0005716 [rarediseases.info.nih.gov]

Bifid tongue ; Cataract ; Cerebellar hypoplasia ; Cleft upper lip ; Congenital hepatic fibrosis ; Cryptorchidism ; Dandy-Walker malformation ; Depressed nasal bridge ; Disproportionate [mousephenotype.org]

Microspherophakia - Metaphyseal Dysplasia Syndrome

] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Medical Term Other Names Description Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age [rarediseases.oscar.ncsu.edu]

Multiple Epiphyseal Dysplasia with Miniepiphyses

stature Metaphyseal widening Disproportionate short-limb short stature Arthritis Limited elbow extension Spondyloepimetaphyseal dysplasia Brachydactyly Short femoral neck [mendelian.co]

short stature Short neck Barrel-shaped chest Metaphyseal dysplasia Osteoarthritis Midface retrusion Rare Symptoms - Less than 30% cases Short long bone Proportionate short [mendelian.co]

[…] hyperlordosis. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Scoliosis Coxa vara Irregular epiphyses Micromelia Waddling gait Disproportionate [mendelian.co]

Acrodysostosis Type 1

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]

Metaphyseal Chondrodysplasia Type Kaitila

Disproportionate short-limb short stature MedGen UID: 342370 • Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an [ncbi.nlm.nih.gov]

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

At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2). [documents.tips]