Short Stature Causes & Reasons

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Short Stature Symptom Checker: Possible causes include Growth Failure. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Growth Failure

Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature. [ncbi.nlm.nih.gov]

References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal [amboss.com]

skeletal dysplasias and intrauterine growth restriction without catch-up growth. [ncbi.nlm.nih.gov]

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Malnutrition

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]

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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]

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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]

Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia. [ncbi.nlm.nih.gov]

Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk). [orpha.net]

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Mucopolysaccharidosis

The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge. [ncbi.nlm.nih.gov]

above MPS VI Maroteaux–Lamy syndrome ARSB deficiency 253200 ARSB 5q14.1 N-acetylgalactosamine-4-sulfatase Dermatan sulfate Severe skeletal dysplasia, short stature, motor [en.wikipedia.org]

Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. [ncbi.nlm.nih.gov]

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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]

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Pseudopseudohypoparathyroidism

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

stature. [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]

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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]

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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]

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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]

Signs may include short stature, round face, obesity, short bones in the hand, and mental delay. The disorder is diagnosed with a physical exam and laboratory tests. [symptoma.com]

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Pituitary Dwarfism

The major cause of short stature in Turner syndrome and other patients with SHOX defects with or without skeletal dysplasia is haploinsufficiency of the SHOX gene. [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]

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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]

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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]

Short stature and bone deformities (abnormally formed, shortened or fused bones) can lead to difficulty in positioning. [tandfonline.com]

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]

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Laron Syndrome

It is sometimes classified as either proportional short stature or dysproportional short stature such as cases of achodroplasia, hypochondroplasia and multiple epiphyseal [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]

Keywords Laron, Syndrome, Short stature, Growth hormone, Receptor resistance. [alliedacademies.org]

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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]

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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]

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

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

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Osteogenesis Imperfecta

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res 2017;26:1337-48. 17. [doi.org]

Abstract Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is [ncbi.nlm.nih.gov]

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

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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]

"Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias." [en.wikipedia.org]

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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]

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Mucopolysaccharidosis Type 2

above MPS VI Maroteaux–Lamy syndrome ARSB deficiency 253200 ARSB 5q14.1 N-acetylgalactosamine-4-sulfatase Dermatan sulfate Severe skeletal dysplasia, short stature, motor [en.wikipedia.org]

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

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

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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]

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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]

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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]

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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]

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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]

Geister KA, Camper SA: Advances in skeletal dysplasia genetics. Annu Rev Genomics Hum Genet 2015;16: 199–227. [karger.com]

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

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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]

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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]

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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]

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Glycogen Storage Disease Type 1

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

stature. [en.wikipedia.org]

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

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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]

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

The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. [icdlist.com]

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