Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. [ncbi.nlm.nih.gov]

• Short Stature

  Severe short stature could be traced back several generations. [ncbi.nlm.nih.gov]

  Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. [^] 4. [moldiag.com]

• Disability

  Please enable JS and disable any ad blocker [cairn.info]

  […] underlying condition Height of at least 2 standard deviations below the mean for age Prenatal disorders Embryopathies caused by noxious substances such as alcohol or nicotine Embryo-fetal alcohol syndrome (short stature, facial stigmata, intellectual disability [amboss.com]

  They also aid in the differential diagnosis of skeletal dysplasia subtypes. [3] Treatment [ edit ] The decision to treat is based on a belief that the child will be disabled by being extremely short as an adult, so that the risks of treatment (including [en.wikipedia.org]

  Instead, they argue that GH therapy is indicated not by virtue of a medical diagnosis but whenever a disability in adaptation can be attributable to short stature. [journalofethics.ama-assn.org]

• Asymptomatic

  HLA screening of the patient's family led to the identification of coeliac disease in her brother aged 12 years and her asymptomatic mother both of whom were short in stature. [ncbi.nlm.nih.gov]

  Congenital hypothyroidism is often detected on newborn screening (due to low levels of T4 at birth) but can arise later in life due to a late presentation of a congenital problem or an acquired thyroid deficiency If gradual in onset, may be otherwise asymptomatic [pedclerk.bsd.uchicago.edu]

  Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children. J Pediatr. 2013;163(4):1045–1051. 4. Keane V. Assessment of growth. In: Kliegman R, Nelson WE, eds. [aafp.org]

   Asymptomatic Delayd BA  Delayed growth Constipation  Constipation Mentally delayd unless  Normal IQif developed treated at 2-3 mnths. >2yrs of age  Dry skin 73. • Regardless of symptoms all children with significant short stature should be [slideshare.net]

• Weakness

  Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. [ncbi.nlm.nih.gov]

  StatPearls will help you identify your weaknesses so that when you are ready to study for a board or certification exam in Family Medicine-Medical Student, you will already be prepared. [knowledge.statpearls.com]

  Results: There was a weak significant relationship between height and negative psychology of SS children. [omicsonline.org]

  Side effects may include easy bruising, thinning of the skin, softening of the bones, muscular atrophy (wasting) and general body weakness. A blood test is used to determine the amount of cortisol in the blood. [hgfound.org]

  However, in August of 2011, the Food and Drug Administration (FDA) identified a number of study design weaknesses that limited the ability to interpret the results and hence concluded that the evidence linking the use of GH and increased risk of death [clinicaladvisor.com]

• Pallor

  Vital signs: Tachycardia may indicate cardiac failure; bradycardia may suggest eating disorders or severe hypothyroidism Tachypnea may be observed in respiratory disorders such as cystic fibrosis, or other chronic cardiac and pulmonary diseases Pallor [online.epocrates.com]

  […] targeted laboratory evaluation Idiopathic short stature Height < 2 standard deviations below the mean for age with no identified pathology, normal growth velocity and bone age Laboratory testing to rule out pathology Chronic diseases Anemia Fatigue, pallor [aafp.org]

  Characteristic findings on physical examination Infants with GHD may present with a midline defect (see above), wandering (searching) nystagmus (due to optic nerve hypoplasia), signs of hypoglycemia (seizures, tremor, pallor, weakness, vomiting, diarrhea [clinicaladvisor.com]

• Dyspnea

  Any signs of chronic disease (dyspnea, diarrhea, blood in stools, joint pain, recurrent respiratory tract infection) Weight gain → Cushing syndrome Fatigue, constipation, dry skin → Hypothyroidism Multiple systemic congenital abnormalities → Genetic syndromes [drhc.ae]

  Medical history Dyspnea may suggest a cardiac or pulmonary cause, such as moderate/severe asthma, or chronic heart disease. Diarrhea may suggest celiac disease or other malabsorption syndromes. [online.epocrates.com]

• High Pitched Voice

  […] echocardiography Homocystinuria Marfan-like habitus, developmental delay, inferior subluxation of lens Homocysteine and methionine measurements, dilated eye examination Klinefelter syndrome (XXY) Delayed puberty; infertility; small, firm testes; gynecomastia; high-pitched [aafp.org]

• Failure to Thrive

  […] to thrive (child) R62.52 Short stature (child) R62.59 Other lack of expected normal physiological development in childhood R62.7 Adult failure to thrive R63 Symptoms and signs concerning food and fluid intake R63.3 Feeding difficulties R63.4 Abnormal [icd10data.com]

  Acromegaly (Medical Encyclopedia) Beckwith-Wiedemann syndrome (Medical Encyclopedia) Delayed growth (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Gigantism (Medical Encyclopedia) Growth chart (Medical Encyclopedia) Growth hormone deficiency [icdlist.com]

  Growth disorders include: Failure to thrive, which isn't a specific growth disorder itself, but can be a sign of an underlying condition causing growth problems. [kidshealth.org]

  Symptoms of Growth Disorder Some of the symptoms of children with growth problems include: Fetal growth restriction Chronic Illness Malnutrition / Malabsorption Hypothyroidism Bone disorders Failure to Thrive (FTT) Evaluation begins with birth history [newportchildren.com]

  Synonyms [ edit ] Constitutional Delay of Growth and Adolescence (CDGA) Constitutional Growth Delay (CGD) See also [ edit ] Idiopathic short stature Failure to thrive References [ edit ] [en.wikipedia.org]

• Vomiting

  Short stature, obesity, round face, subcutaneous ossification, brachydactyly Growth hormone ( GH ) deficiencies Caused by hypopituitarism Growth retardation ↓ bone density and muscle atrophy Congenital adrenal hyperplasia 21β-hydroxylase deficiency Vomiting [amboss.com]

  Your child may have a health problem if he or she has: Stopped or or very slowed growth Weight loss or gain—more than five pounds in a month Lack of hunger Loss of appetite Belly pain and diarrhea Fever Headaches and vomiting Delayed puberty—no spotting [cancercarewny.com]

  Polyuria, polydipsia, vomiting, early morning nausea: for suspected CNS masses. Milestones delay: for GH deficiency. Psychological problems (emotional deprivation, social withdrawal…etc.): for Psychological short stature. [wikidoc.org]

  Chronic Systemic Illness:1) Chronic Infections -eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis - Growth retardation is due to impaired appetite, decreased food intake, increased catabolism, poor utilization of food, vomiting & diarrhoea2) Malabsorbtion [slideshare.net]

  Adverse effects of somatropin include headache, muscle pain, edema, or fluid retention, problems with eyesight, joint pain, vomiting, and nausea. [medicalnewstoday.com]

• Nausea

  Polyuria, polydipsia, vomiting, early morning nausea: for suspected CNS masses. Milestones delay: for GH deficiency. Psychological problems (emotional deprivation, social withdrawal…etc.): for Psychological short stature. [wikidoc.org]

  […] syndrome Down syndrome Williams syndrome Fanconi syndrome Noonan syndrome Skeletal dysplasias ( achondroplasia, osteogenesis imperfecta ) See respective links for more information Varying degrees of skeletal abnormalities with short stature Neoplasms Nausea [amboss.com]

  Adverse effects of somatropin include headache, muscle pain, edema, or fluid retention, problems with eyesight, joint pain, vomiting, and nausea. [medicalnewstoday.com]

• Jaundice

  Typical feature of infants with hypothyroidism include large size, umbilical hernia, prolonged jaundice, poor feeding, hypothermia, myxedema, constipation, and increase height to weight ratio. [drhc.ae]

  […] chromosomal abnormality, transplacental infectious disease, malnutrition, hypoxia, toxins (alcohol, nicotine, recreational drugs), medications Birth related causes of growth delay: Causes include birth asphyxia, birth trauma, hypoglycemia, prolonged neonatal jaundice [learn.pediatrics.ubc.ca]

  Most infants with the congenital form are normal size at birth, but may have episodes of hypoglycemia or prolonged jaundice. Physical examination may reveal microphallus or midline craniofacial abnormalities. [aafp.org]

  A neonatal history that includes hypoglycemia, prolonged jaundice, or microphallus should raise suspicions of hypopituitarism. [hawaii.edu]

  Clues to etiology from historyHistory EtiologyHistory of delay of puberty in parents Constitutional delay of growthLow Birth Weight SGANeonatal hypoglycemia, jaundice, micropenis GH deficiencyDietary intake Under nutritionHeadache, vomiting, visual problem [slideshare.net]

• Hepatomegaly

  […] examination Infants with GHD may present with a midline defect (see above), wandering (searching) nystagmus (due to optic nerve hypoplasia), signs of hypoglycemia (seizures, tremor, pallor, weakness, vomiting, diarrhea, and/or delayed development), and/or hepatomegaly [clinicaladvisor.com]

• Severe Short Stature

  Severe short stature could be traced back several generations. [ncbi.nlm.nih.gov]

  In collaboration with Dutch and American researchers, we found four additional families with mutations in the same gene resulting in either osteoporosis - as in the Finnish patients - or an even more serious bone disease associated with severe short stature [news-medical.net]

  IGF1 DEFICIENCY : Severe short stature Laron dwarfism (GH resistance) Genetic defect in the GH receptor gene IgF1 gene mutation PSEUDOHYPOPARATHYROIDISM : Primary resistance to PTH. [drhc.ae]

  Familial short stature, Precocious puberty 56. [slideshare.net]

  The diagnosis of Turner syndrome was made on the basis of physical signs and confirmed by the chromosomal study. 7 After excluding other causes of short stature, growth hormone deficiency (GHD) was considered if a child had severely short stature (height [asean-endocrinejournal.org]

• Hip Dislocation

  Typically, these patients present a lower value for upper segment/lower segment ratio, short neck, large thorax, scoliosis, kyphosis, cubitus valgus, Madelung deformity, congenital hip dislocation, genu valgum, and short IV and/or V metacarpal and metatarsal [intechopen.com]

Workup for GH def• endogenous GH is secreted in a pulsatile fashion. These intermittent peaks are greatest after exercise, meals, and during deep sleep. [slideshare.net]

Although most children with short or tall stature do not have a pathologic condition, extremes of height, especially beyond three standard deviations, require further workup. [aafp.org]

Abstract We evaluated the 12 month growth of 18 pubertal children with familial short stature randomly assigned to clinical follow-up (group A), GH treatment alone (group B) and GH+LHRH analogue (LHRHa) treatment (group C). [ncbi.nlm.nih.gov]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Also, because growth-promoting benefits of GH treatment are modest and variable, it would be a mistake to assume that height-related teasing will cease with treatment. [journalofethics.ama-assn.org]

“No treatment at all is also a very reasonable option,” stated the authors. [endocrineweb.com]

Moreover in group B height and height prognosis standard deviation score SDS) also were higher (-2.2 +/- 0.2 vs -1.7 +/- 0.2 and 1.8 +/- 0.3 vs -1 +/- 0.2, respectively). [ncbi.nlm.nih.gov]

The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. [nature.com]

It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown" [ 11 ]. [ijpeonline.biomedcentral.com]

Outlook The prognosis for persons with normal variant short stature is excellent. [emedicinehealth.com]

Etiological profile of short stature. Indian J Pediatr. 2003;70(7):545-7. http://dx.doi.org/10.1007/BF02723154. 13. Biswas, K., 2005. Short stature: Etiologically different in the developing country. [asean-endocrinejournal.org]

Laboratory evaluation Choice of tests should be based on the potential etiologies after a careful history and physical examination. [online.epocrates.com]

References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected [amboss.com]

Clinical Pearls • What diagnoses should be considered in a child with short stature and what is the most common etiology? Clinicians who evaluate children with short stature must consider many potential causes. [blogs.nejm.org]

[…] kidney function for chronic disease, sweat chloride testing GH stimulation test, IGF1, IGFBP-3 FT4, TSH, ASTH, urine, serum cortisol, dexamethasone suppression test MRI for pituitary disease Karyotype for genetic syndromes TREATMENT: It depends on the etiology [drhc.ae]

Organic Pollutants and Fetal Growth 2559 153 n3 Polyunsaturated Fatty Acids and Foetal Growth 2579 154 Polyunsaturated Fatty Acids and Growth in Healthy Children and Some Rare Diseases 2597 155 Folate and Fetal Growth 2619 Growth Exercise and Nutrition Epidemiological [books.google.com]

Frequency [ edit ] Although the epidemiologic data indicate that all variants of normal growth are twice as common in boys as in girls, referrals for short stature reflect an even more divergent sex ratio. [en.wikipedia.org]

References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected [amboss.com]

Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab. 2007;18(4):167–174. 22. Rogol AD, Hayden GF. [aafp.org]

Pathophysiology [ edit ] CDGP is a global delay in development that affects every organ system. [en.wikipedia.org]

Clinical review 14: Pathophysiology and treatment of sexual precocity. JClin Endocrinol Metab 1990; 71:785. 10. Clinical pediatric endocrinology by Charles Groves Darville Brook, Peter E. Clayton, Rosalind S. Brown. 11. Stedman's Medical Dictionary. [wikidoc.org]

References: [1] [2] Causes of short stature Causes of short stature Pathophysiology Specific features Nonpathological Familial short stature Inheritance of parental short stature Normal development; skeletal age consistent with chronological age Constitutional [amboss.com]

Prevention Short stature can’t be prevented in children who have a familial short stature or short stature from genetic problems. Short stature from health problems can be prevented by treating the problem causing it. [cancercarewny.com]

Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. [icdlist.com]

A well balanced diet will help prevent or overcome this disorder. Intrauterine Growth Retardation (“IUGR”) ( top ) A disorder which occurs while the baby is still in the mother’s womb. [hgfound.org]

Illnesses that affect the whole body (also called systemic diseases) Malnutrition--constant malnutrition prevents children from attaining their full growth potential; a well-balanced diet generally prevents or corrects this disorder. [childrensnational.org]

Early intervention can prevent future problems in many cases. Normally, at 8 years of age, a child's arm span is around the same as their height. [medicalnewstoday.com]