Short-stature: Causes & Reasons

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Possible Causes for short stature

Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites). [chop.edu]

stature. [britannica.com]

[…] for their age during childhood and of short stature as an adult). [myvmc.com]

Zinc Deficiency

Deficiency of zinc is associated with short stature, anemia, increased pigmentation of skin (hyperpigmentation), enlarged liver and spleen (hepatosplenomegaly), impaired gonadal [medicinenet.com]

Complications can include motor delays, skeletal deformities, and chronic growth problems that can result in short stature, seizures, and dental defects. [adoptionnutrition.org]

Growth Hormone Deficiency

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]

BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature [ncbi.nlm.nih.gov]

More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial' [ncbi.nlm.nih.gov]

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]

Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. [ncbi.nlm.nih.gov]

The older sister presented with PNDM, exocrine pancreatic insufficiency, short stature, microcephaly, normocytic anemia, delay in speech development, skeletal abnormalities [ncbi.nlm.nih.gov]

Mucopolysaccharidosis

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

The intermediate type has the phenotype similar to that in mucolipidosis iii with coarse hurler-like facies, stiff joints with decreased mobility, and short stature. [icd9data.com]

Many children develop a short body trunk and a maximum stature of less than 4 feet. [en.wikipedia.org]

Adrenogenital Syndrome

Prognosis of Congenital Adrenal Hyperplasia (Adrenogenital syndromes) The outcome is usually associated with good health, but short stature may result even with treatment. [myvmc.com]

Hypogonadism

[…] characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. [orpha.net]

stature Kallmann syndrome: anosmia, absent breast development, uterus is present, syndactyly, cleft palate or lip Prader-Willi syndrome: muscular hypotonia, short stature [amboss.com]

stature (in some cases) Adults: Loss of interest in sex (libido) in men Loss of menstrual periods (amenorrhea) in women Decreased energy and interest in activities Loss of [medlineplus.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]

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

Short stature may be present. Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. Osteoma cutis may be present. [en.wikipedia.org]

Pseudohypoparathyroidism Type 1A

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

Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO. [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]

stature, vomiting, headache, cortical blindness, deafness and dementia. [e-arm.org]

Pseudohypoparathyroidism

The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications. [ncbi.nlm.nih.gov]

We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity. [ncbi.nlm.nih.gov]

The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. [ncbi.nlm.nih.gov]

Pituitary Dwarfism

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

Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature [ncbi.nlm.nih.gov]

Abstract We report here the results obtained with a new test of prolactin (PRL) release in six normal pre-pubertal boys, eleven children with short stature of non-pituitary [ncbi.nlm.nih.gov]

Rothmund-Thomson Syndrome

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]

It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity [ncbi.nlm.nih.gov]

The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective [ncbi.nlm.nih.gov]

Progressive Familial Intrahepatic Cholestasis

stature. [ncbi.nlm.nih.gov]

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

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

Laron Syndrome

We report the case of a 10-year-old female patient who was presented with severe short stature and found to have growth hormone resistance, and was finally diagnosed with [alliedacademies.org]

Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012;166(3):351-7. [ijmedicine.com]

We report the case of a 10-yearold female patient who was presented with severe short stature and found to have growth hormone resistance, and was finally diagnosed with Laron [alliedacademies.org]

Endocrine Dysfunction

Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. [uniprot.org]

Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally. [ncbi.nlm.nih.gov]

Final short stature, found in five of the 35 patients who attained final height, was associated with the underlying disease (specifically, Fanconi anemia) (P 0.0013), previous [ncbi.nlm.nih.gov]

Mowat-Wilson Syndrome

Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital [ncbi.nlm.nih.gov]

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

stature, and genitourinary anomalies. [ncbi.nlm.nih.gov]

Osteogenesis Imperfecta

Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and DI. [orpha.net]

(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. [ncbi.nlm.nih.gov]

Common features include short stature, opalescent teeth, blue sclerae and hearing impairment. [ncbi.nlm.nih.gov]

Turner Syndrome

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]

short stature and pubertal arrest. 45,X karyotype, and multiple pituitary hormone deficiency with empty sella. [ncbi.nlm.nih.gov]

Bloom Syndrome

Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop [ncbi.nlm.nih.gov]

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased [ncbi.nlm.nih.gov]

Being aware of this might prevent a delay in diagnosing this rare short-stature syndrome and, subsequently, its potential clinical implications. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

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]

stature 0003502 Neurodegeneration Ongoing loss of nerve cells 0002180 Obstructive sleep apnea 0002870 Pes cavus High-arched foot 0001761 Ptosis Drooping upper eyelid 0000508 [rarediseases.info.nih.gov]

Anorexia Nervosa

stature, and heart problems. [health.harvard.edu]

Medical abnormalities include anaemia, hypotension, short stature and structural brain changes. [obgyn.onlinelibrary.wiley.com]

[…] dental problems (stomach acids from repeated vomiting can damage teeth) Medical complications of anorexia can include stress fractures, bone loss (osteopenia), growth delay, short [health.harvard.edu]

Coats Plus Syndrome

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

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]

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‐ [doi.org]

Hypogonadotropic Hypogonadism

Aged 17 years, the boy was referred because of short stature (162 cm) and overweight (62.5 kg). [ncbi.nlm.nih.gov]

Causes: Miscellaneous Prader-Willi Syndrome Obesity Short Stature Mild Mental Retardation Systemic Conditions Chronic gastrointestinal conditions Chronic Kidney Disease Gaucher's [fpnotebook.com]

stature (in some cases) Adults: Loss of interest in sex (libido) in men Loss of menstrual periods (amenorrhea) in women Decreased energy and interest in activities Loss of [medlineplus.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]

Short stature, dehydration, motor and mental retardation, bilateral cataracts, glaucoma, and band keratopathy were detected on physical examination. [ncbi.nlm.nih.gov]

Cystic Fibrosis

Short stature and pubertal delay in male adolescents with cystic fibrosis. Androgen treatment. [ncbi.nlm.nih.gov]

stature Upset stomach Wheezing or shortness of breath Cystic fibrosis occurs in about 1 in every 3,500 live births. [rileychildrens.org]

[…] experience some or all of the following: Diarrhea Fatigue Persistent coughing, at times with mucus or phlegm Poor nutrition Recurrent respiratory infections, including pneumonia Short [rileychildrens.org]

Baller-Gerold Syndrome

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]

A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus. [ncbi.nlm.nih.gov]

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]

Hallermann-Streiff Syndrome

A case of a 29-year-old man with atypical HSS with neither cataracts, hair and skin alterations, nor short stature is reported, with special consideration to oral findings [ncbi.nlm.nih.gov]

stature. [orpha.net]

Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature [ncbi.nlm.nih.gov]

Shwachman Syndrome

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

Skeletal abnormalities and short stature are characteristics that can be used to support the diagnosis. [en.wikipedia.org]

stature, and skeletal changes. [medical-dictionary.thefreedictionary.com]

Hidrotic Ectodermal Dysplasia

Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome. [ncbi.nlm.nih.gov]

Short stature, mental deficiency (rare and not typically severe), clubbing of the digits and ocular issues (strabismus, cataracts, conjunctivitis, blepharitis, myopia) have [dermatologyadvisor.com]

stature Diagnostic studies --Light microscopy of hair with disorganized fibrillar structure and reduced birefringence on polarized light --Hair shafts are abnormal and may [dermatologyadvisor.com]