Short Stature: Causes & Reasons

Possible Causes for Short Stature

(Redirected from Short height) Short stature Specialty Endocrinology Short stature refers to a height of a human which is below typical. [en.wikipedia.org]

We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone [ncbi.nlm.nih.gov]

As a familial tendency to short stature is often present, genetic factors are presumed to explain short stature in many of these children. [doi.org]

Wolcott-Rallison Syndrome

She was noted to have short stature at 8 years of age (height EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. [doi.org]

[…] liver failure, or pancytopenia, diabetes associated with skeletal dysplasia, short stature, episodes of acute liver failure, or pancytopenia. [abstracts.eurospe.org]

General examination revealed disproportionate short stature with short upper limb, genu valgum, mild joint laxity, and pectus carinatum suggestive of SED tarda X-linked type [jisppd.com]

Mucopolysaccharidosis

Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. [ggc.org]

This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions. [news-medical.net]

His skeletal deformity and short stature remained unchanged. [ncbi.nlm.nih.gov]

Pseudopseudohypoparathyroidism

She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones. [doi.org]

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]

Typical findings include short stature, obesity, round facies, and reduced length of metacarpal and metatarsal bones, but without resistance to parathyroid hormone (PTH), [symptoma.com]

Pseudohypoparathyroidism Type 1A

This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications. [ncbi.nlm.nih.gov]

In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome. [ncbi.nlm.nih.gov]

We therefore hypothesized that patients with PHP type 1a may be GH deficient which could contribute to the obesity and short stature in this condition. [ncbi.nlm.nih.gov]

MELAS Syndrome

stature. [ncbi.nlm.nih.gov]

Early development is usually normal except for short stature. [pediatricneurologybriefs.com]

Clinically, the proband had a stroke-like episode with right hemiparesis, hemianopsia and mental dysfunction as well as short stature, hearing impairments, and elevated lactate [ncbi.nlm.nih.gov]

Rothmund-Thomson Syndrome

- - F no Denmark white >44y - - - RTS2 poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell [databases.lovd.nl]

Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands. [ncbi.nlm.nih.gov]

The onset is in early infancy and photodistributed poikiloderma (that becomes widespread later), premature aging, and short stature are characteristic. [idoj.in]

Mowat-Wilson Syndrome

Other features include short stature and intellectual disabilities. It is inherited as an autosomal recessive condition. [accessanesthesiology.mhmedical.com]

stature. [jewelautismcentre.com]

stature References Promoted articles (advertising) [radiopaedia.org]

Turner Syndrome

Short stature Specialty Endocrinology Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. [en.wikipedia.org]

stature (Short-Stature Group) were enrolled. [ncbi.nlm.nih.gov]

Short stature is defined as a standing height below the third percentile according to Tanner et al. Short stature affects approximately 2% of children. [ejournal.undip.ac.id]

Mucopolysaccharidosis Type 2

Early bone involvement leads to decreased growth velocity and short stature in nearly all patients. [ncbi.nlm.nih.gov]

Recurrent otitis media Recurrent middle ear infection 0000403 Scaphocephaly 0030799 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 [rarediseases.info.nih.gov]

stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Chronic diarrhea 0002028 Conductive hearing impairment Conductive deafness [rarediseases.info.nih.gov]

Proximal Renal Tubular Acidosis

Though rare, recessive SLC4A4 mutations have been reported in patients with proximal renal tubular acidosis, short stature, and ocular pathology. [ncbi.nlm.nih.gov]

stature. [ncbi.nlm.nih.gov]

Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, short stature and ocular abnormalities. [ncbi.nlm.nih.gov]

Baller-Gerold Syndrome

J Immunol 2016;196: 244–255. de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, et al: An XRCC4 splice mutation associated with severe short stature [karger.com]

People with Baller-Gerold syndrome may have a number of other signs and symptoms, including slow growth from infancy, short stature, and malformed or missing kneecaps (patellae [altmeyers.org]

In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A>C). [ncbi.nlm.nih.gov]

Shwachman Syndrome

Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. [termedia.pl]

Shwachman syndrome - an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency, neutropenia, short stature, and skeletal changes [medical-dictionary.thefreedictionary.com]

Further research is required to analyse the long-term effect of rGH therapy in patients with SDS. keywords: growth hormone, short stature, Shwachman-Diamond syndrome [termedia.pl]

Progressive Familial Intrahepatic Cholestasis

stature. [ncbi.nlm.nih.gov]

Extrahepatic features have been reported including persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness. [orpha.net]

Additional manifestations may include short stature, sensorineural deafness, watery diarrhea, pancreatitis, elevated sweat electrolyte concentration and liver steatosis. [orpha.net]

Glycogen Storage Disease Type 1

Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency. [ncbi.nlm.nih.gov]

short stature. [en.wikipedia.org]

GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. [mayoclinic.pure.elsevier.com]

Pseudo-Hurler Polydystrophy

Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender [ncbi.nlm.nih.gov]

General musculoskeletal Short stature, skeletal dysplasia with muscle weakness and contractures, osteoporosis, and joint contractures (. Fig. 5.17). [passeidireto.com]

Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. [ncbi.nlm.nih.gov]

Glycogen Storage Disease Type 3

Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. [rarediseases.info.nih.gov]

stature. [themedicalbiochemistrypage.org]

[…] debranching enzyme Deficiency in glycogen debranching activity causes hepatomegaly, ketotic hypoglycemia, hyperlipidemia, variable skeletal myopathy, cardiomyopathy and results in short [themedicalbiochemistrypage.org]

Osteogenesis Imperfecta Type 15

stature, and, in some patients, blue sclera. [ncbi.nlm.nih.gov]

OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. [malacards.org]

Type III is severe and the main signs include severe short stature, a triangular face, severe scoliosis, grayish sclera, and DI. [orpha.net]

Mucopolysaccharidosis Type 4A

Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding. [medical-dictionary.thefreedictionary.com]

Short stature, skeletal dysplasia, dental anomalies and corneal clouding are the hallmarks of MPS-IVA. [symptoma.com]

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Epiphyseal deformities of tubular [rarediseases.info.nih.gov]

Ehlers-Danlos Syndrome Type 4

[…] excavatum Funnel chest 0000767 Peripheral arteriovenous fistula 0100784 Pneumothorax Collapsed lung 0002107 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short [rarediseases.info.nih.gov]

On examination, she was short-statured, had curly wispy hair, pinched nose, hyper-pigmented extremities, swollen joints without hypermobility, wrinkled, dry, thin skin without [neurologyindia.com]

stature Mitral valve prolapse Vitiligo Cyanosis of the lips, fingernails and toenails in response to cold temperatures Gastrointestinal complications Postural orthostatic [blog.crowdmed.com]

Kabuki Syndrome

These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. [ncbi.nlm.nih.gov]

The syndrome is characterized by the following clinical features: Short stature Developmental delay Congenital heart disease Skeletal anomalies Cleft Palate Distinct facial [immunodeficiencysearch.com]

stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. [dnatesting.uchicago.edu]

Coffin-Lowry Syndrome

Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers [medical-dictionary.thefreedictionary.com]

Individuals with Coffin-Lowry syndrome may have physical features such as large hands with short, thin fingers, short stature, small/underdeveloped upper jaw, prominent brow [ideas.org.au]

KBG syndrome is characterized by macrodontia of the upper incisors, short stature, skeletal anomalies, and intellectual disability. [dnatesting.uchicago.edu]

Coats Plus Syndrome

This case also illustrates the importance of WES in the diagnosis of children with extreme short stature. [abstracts.eurospe.org]

Observations: A 15-year-old girl with a history of small for gestational age, short stature, microcephaly, thinning/ greying of scalp hair, skin hyperpigmentation, nail ridging [jdc.jefferson.edu]

We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre- [ncbi.nlm.nih.gov]

Hereditary Multiple Exostoses

Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. [ncbi.nlm.nih.gov]

The most common deformities include short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the pectoral and pelvic girdles, bowing [ncbi.nlm.nih.gov]

It is associated with short stature and asymmetrical growth at the knees and ankles, which may lead to deformities. [patient.info]

Mucolipidosis

Abstract The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility. [ncbi.nlm.nih.gov]

stature. [ncbi.nlm.nih.gov]

stature, developmental delay and other structural abnormalities. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

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

[virtualmedstudent.com] Entire body system Short Stature The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [symptoma.com]

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

Mucopolysaccharidosis Type 4

short stature and joint problems. [study.com]

Abnormal curvature of the spine Cloudy cornea Heart murmur Hernia in the groin Enlarged liver Loss of nerve function below the neck Short stature (especially short trunk) [mountsinai.org]

stature, wide teeth, heart and vision problems and a number of other complications. [nicklauschildrens.org]

Mucopolysaccharidosis Type 1

Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX. [neurology.testcatalog.org]

Symptoms of MPS IX are periodically painful soft tissue masses around the joints, acquired short stature and erosion of the hip joint, although joint movement and intelligence [reactome.org]

MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia. [centogene.com]

Mucopolysaccharidosis Type 1 H

This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions. [news-medical.net]

Other causes of general learning disability and short stature. [patient.info]

Symptoms usually become apparent between three and eight years of age and include coarse facial features, corneal clouding, joint stiffness, short stature and hepatosplenomegaly [news-medical.net]

Laurence Moon Syndrome

Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful. Speech therapy. Renal opinion. [patient.info]

[…] patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of Bardet-Biedl syndrome. [ 1, 2 ] Features These are: [ 3 ] Short [patient.info]

Laurence-Moon-Biedl syndrome (lo-rĕns moon bee-d'l) n. an autosomal recessive condition characterized by obesity, short stature, learning disabilities, retinitis pigmentosa [encyclopedia.com]