Severe Short Stature: Causes & Reasons

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Possible Causes for Severe Short Stature

Laron Syndrome

BACKGROUND/AIMS: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically [ncbi.nlm.nih.gov]

short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). [doi.org]

(Print) eISSN: 1663-2826 (Online) For additional information: https://www.karger.com/HRP Abstract Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe [doi.org]

Seckel Syndrome

One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. [ncbi.nlm.nih.gov]

Seckel syndrome is an autosomal recessive condition with severe short stature and facial and neurological anomalies. [ncbi.nlm.nih.gov]

The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

Patients with MPS VI have bone abnormalities, severe short stature, corneal clouding, lung problems, liver and spleen enlargement and heart valve abnormalities. [mpssociety.org]

The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [orpha.net]

Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (GAG, generally >100 microgram/mg creatinine), severe dysostosis multiplex, short [orpha.net]

Marchesani-Weill Syndrome

They are highly heterogeneous and can cause a broad phenotypic spectrum from mild and isolated short stature to severe and syndromic short stature [1, 5, 6]. [amjcaserep.com]

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM. [pubmed.ncbi.nlm.nih.gov]

Weill-Marchesani syndrome ( WMS ) is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma [ctgt.net]

Osteogenesis Imperfecta

Height: Individuals with type III OI have severe short stature by definition; individuals with type IV OI recruited to the study will have height less than the 3rd percentile [clinicaltrials.gov]

They also have short stature, severe limb deformity, wormian bones, and progressive scoliosis which can be severe. [emedicine.medscape.com]

Clinical examinations revealed low bone density, short stature, severe vertebral compression fractures, and multiple long bone fractures in the affected members. [ncbi.nlm.nih.gov]

Mulibrey Nanism Syndrome

Core features of these groups include severe intrauterine and postnatal growth deficiency, severe postnatal short stature, primary microcephaly, characteristic facial features [dnatesting.uchicago.edu]

Symptoms & Signs The disorder has characteristic symptoms that may include low birth weight, short stature & severe progressive growth delays. [signssymptoms.org]

Spondylometaphyseal Dysplasia Type Kozlowski

He presented with postnatal severe short stature, progressive lower limb deformity with rhizomelic shortening of the long bones, prominent joints with limited mobility in [ncbi.nlm.nih.gov]

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened [ncbi.nlm.nih.gov]

short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short sacroiliac notch 0003185 Short tubular bones of the hand 0001248 Tibial metaphyseal [rarediseases.info.nih.gov]

Achondrogenesis Type 2

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal [ncbi.nlm.nih.gov]

short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened [rarediseases.info.nih.gov]

Small jaw Small lower jaw [ more ] 0000347 Micromelia Smaller or shorter than typical limbs 0002983 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Severe [rarediseases.info.nih.gov]

Mucopolysaccharidosis Type 2

short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Split hand Claw hand Claw hand deformities [rarediseases.info.nih.gov]

[…] apnea 0002870 Pes cavus High-arched foot 0001761 Ptosis Drooping upper eyelid 0000508 Recurrent otitis media Recurrent middle ear infection 0000403 Scaphocephaly 0030799 Severe [rarediseases.info.nih.gov]

Growth Hormone Deficiency

A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years. [ncbi.nlm.nih.gov]

CONCLUSION: We present a family with IGHD II, with severe short stature, no phenotypic characteristics of GHD and a novel nonsense mutation in exon 3 of the GH1 gene. [ncbi.nlm.nih.gov]

OBJECTIVE: This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of severe short stature in a large consanguineous [ncbi.nlm.nih.gov]

3M Syndrome

Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. [scienceopen.com]

Based on genetic studies in children with severe short stature of unknown etiology it has been suggested that monogenic causes of short stature are underdiagnosed in the pediatric [blueprintgenetics.com]

Clinical features of 3M syndrome The syndrome is characterised by severe post-natal growth restriction that results in significant short stature with a typical adult height [3msyndrome.wordpress.com]

Metaphyseal Chondrodysplasia Type Schmid

Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. J Med Genet. 2018;55:403–7. [ncbi.nlm.nih.gov]

A mutation of a ‘major gene’ (monogenic disease) is usually considered, when the short stature is severe, under ‐3DS or when the short stature is associated with malformative [intechopen.com]

Abstract Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, [ncbi.nlm.nih.gov]

Mucopolysaccharidosis

MPS patients present with several somatic manifestations, including short stature, musculoskeletal abnormalities, and cardiorespiratory dysfunction, and several primary and [ncbi.nlm.nih.gov]

The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [orpha.net]

Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (GAG, generally >100 microgram/mg creatinine), severe dysostosis multiplex, short [orpha.net]

Diastrophic Dysplasia

BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis. [ncbi.nlm.nih.gov]

Prognosis In the absence of severe complications (spinal cord compression) associated with spinal malformations, life expectancy is good but the short stature and deformity [orpha.net]

[…] are usually severe. [orpha.net]

Russell-Silver Syndrome

Slipped capital femoral epiphysis has been described in several syndromes associated with short stature and endocrine disturbances. [ncbi.nlm.nih.gov]

RSS is characterized by severe intrauterine growth retardation, postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, broad forehead [ncbi.nlm.nih.gov]

[…] and short stature. [jmg.bmj.com]

Weismann-Netter Syndrome

Affiliated tissues include thyroid and bone, and related phenotypes are abnormal cortical bone morphology and severe short stature OMIM® : 57 The diagnostic hallmarks of Weismann-Netter [malacards.org]

Department of Pediatrics, Faculty of Nursing, University of Athens, Athens, Greece INTRODUCTION Among the several causes of short stature is pycnodysostosis, also known as [hormones.gr]

Kniest Dysplasia

Kniest, who first described the condition in 1952, and his patient, who, at the age of 50 years is severely handicapped with short stature, restricted joint mobility, and [ncbi.nlm.nih.gov]

Spranger et al in 1997 reported the same patient, then aged 50 years and severely handicapped with short stature, restricted joint mobility, and blindness, but was mentally [whonamedit.com]

Course and prognosis In severe cases, short stature, prominent knees, cleft palate and clubfeet are noted at birth. [raredisorders.imedpub.com]

Proximal Renal Tubular Acidosis

stature. [ncbi.nlm.nih.gov]

A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild cataract and short stature. [ncbi.nlm.nih.gov]

Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). [ncbi.nlm.nih.gov]

Parastremmatic Dwarfism

short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Showing of 7 | Last updated: 6/1/2019 Making [rarediseases.info.nih.gov]

Platy-spondyly associated with short stature, severe hip changes, distal shortening of ulna, and signs of peripheral dysostosis, with short hands and feet, occurs in spondyloperipheral [rrnursingschool.biz]

Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and [vdocuments.mx]

Achondrogenesis Type 1B

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal [ncbi.nlm.nih.gov]

[…] by severe disproportionate short stature of prenatal onset. [emedicine.medscape.com]

Robinow Syndrome

Spine and rib anomalies are usually not present and short stature is less severe. This panel includes sequence deletion/duplication analysis of all the listed genes. [dnatesting.uchicago.edu]

Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. [ncbi.nlm.nih.gov]

There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. [rarediseases.info.nih.gov]

Pseudopseudohypoparathyroidism

A case is presented of a prepubertal girl with the characteristic somatic features of Albright's hereditary osteodystrophy, including severe short stature, cataracts and shortening [ncbi.nlm.nih.gov]

AHO is a rare syndrome that's characterized by a variety of several distinct physical features, including a short stature, obesity, round face, cutaneous ossifications, brachydactyly [doi.org]

[…] rickets and short stature by 1-2 years 22 Rickets:Differential diagnosis Hypophosphatemic Rickets Nutritional phosphate deficiency Prematurity Decreased intestinal absorption [slideplayer.com]

Achondrogenesis

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal [ncbi.nlm.nih.gov]

[…] by severe disproportionate short stature of prenatal onset. [emedicine.medscape.com]

Bloom Syndrome

[…] bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). [malacards.org]

Rare diseases Search Search for a rare disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease definition Intellectual disability-myopathy-short [orpha.net]

[…] mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of [onlinelibrary.wiley.com]

Pituitary Dwarfism

Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill [ncbi.nlm.nih.gov]

As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. [ghr.nlm.nih.gov]

[…] growth retardation, to partial deficiency, with slightly short stature. [endocrine-abstracts.org]

Mucopolysaccharidosis Type 1

Clinical features and severity of symptoms of MPS IVA are widely variable, but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory [neurology.testcatalog.org]

[…] pain, mild facial changes, short stature, normal joint movement, normal intelligence MPS I[edit] MPS I is divided into three subtypes based on severity of symptoms. [en.wikipedia.org]

[…] pain Mild facial changes Short stature Normal joint movement Normal intelligence MPS I MPS I is divided into three subtypes based on severity of symptoms. [wikidoc.org]

Prader-Willi Syndrome

We describe a 17-year-old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to [ncbi.nlm.nih.gov]

Prader-Willi syndrome (PWS) is characterized by extreme floppiness at birth, impaired sexual development, short stature, severe over-eating, characteristic physical features [ncbi.nlm.nih.gov]

People with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic [urmc.rochester.edu]

Septo-Optic Dysplasia

Compared to other children referred for evaluation of short stature, children with SOD were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less severe short stature [ncbi.nlm.nih.gov]

short stature and insignificant plasmatic IGF-1 levels. [scielo.br]

Most commonly, pituitary hypoplasia causes growth hormone deficiency, which results in slow growth and unusually short stature. [ghr.nlm.nih.gov]

Cleidocranial Dysplasia

Abstract Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiarycare hospital. [omjournal.org]

All cases had clinical and radiographic aspects of this important condition, such as short stature, hypertelorism, severe mobility of the shoulders, and supernumerary and [ncbi.nlm.nih.gov]

Bhat MA, Laway BA, Mantoo S, Choudry K, Kotwal S, et al. (2012) Cleidocranial dysplasia: a rare cause of disproportionate severe short stature. Oman Med J 27: 408-410. [omicsonline.org]

Mucopolysaccharidosis Type 4

[…] pain, mild facial changes, short stature, normal joint movement, normal intelligence MPS I [ edit ] MPS I is divided into three subtypes based on severity of symptoms. [en.wikipedia.org]

Clinical features and disease severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities [news-medical.net]

Symptoms of Morquio syndrome include: Short stature, with a very short torso Abnormal bone and spine development, including severe scoliosis Bell-shaped chest with ribs flared [chop.edu]