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]

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]

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]

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]

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]

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]

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]

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]

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]

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

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]

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]

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]

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]

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]

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]

Desbuquois Dysplasia

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]

[…] range of motion 0005692 Patellar dislocation Dislocated kneecap 0002999 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 30%-79% [rarediseases.info.nih.gov]

[…] abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ] 0010318 Bell-shaped thorax 0001591 Camptodactyly of finger Permanent flexion of the finger 0100490 Disproportionate [rarediseases.info.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]

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]

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]

Brachydactyly Type A6

short middle portion of limb 0003027 Radial deviation of finger 0009466 Short phalanx of finger Short finger bones 0009803 Short stature Decreased body height Small stature [rarediseases.info.nih.gov]

[…] calf bone 0003038 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Hypoplasia of the ulna Underdeveloped inner large forearm bone 0003022 Mesomelia Disproportionately [rarediseases.info.nih.gov]

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]

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]

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]

Piepkorn Dysplasia

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 [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

short stature. [nature.com]

Short metatarsal MedGen UID: 341358 •Concept ID: C1849020 • Finding Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Dyschondrosteosis-Nephritis Syndrome

Dyssegmental Dysplasia Type Silverman-Handmaker

short-limb short stature ; Flat face ; Malar flattening ; Micrognathia ; Narrow mouth ; Neonatal death ; Overgrowth ; Posteriorly rotated ears ; Pulmonary hypoplasia ; Short [mousephenotype.org]

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Micrognathia [rarediseases.info.nih.gov]

Features include: Disproportionately short stature (short limbs or short trunk). [patient.info]

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]