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Growth Deficiency: Weight and Height

Impaired weight gain and linear growth arecommon problems in the pediatric population and can occur separatelyor together. Disorders that significantly affect weight gain alsomay affect linear growth.

Principal Causes of Growth Deficiency: Weight and Height

1. Normalvariations
   1. Constitutionaldelay of growth and maturation
   2. Genetic (familial) short stature
2. Disorders primarily affecting weight
   1. Intrauterinegrowth disturbance
   2. Undernutrition
   3. Excessive calorie wasting (vomiting,diarrhea, polyuria)
   4. Chronic disease
   5. Psychologic disorders
      1. Psychosocialdeprivation
      2. Anorexia nervosa
      3. Depression
      4. Psychosis
3. Disorders primarily affecting skeletalgrowth (height)
   1. Chromosomal abnormalities
   2. Dysmorphic syndromes
   3. Bone and cartilage disorders (osteochondrodysplasias)
   4. Endocrine disorders
      1. Hypothyroidism
      2. Glucocorticoid excess
      3. Growth hormone deficiency/insensitivity

Clinical Features and Diagnosis

Normal Variations

Constitutional Delay of Growth and Maturation

Childrenwith constitutional delay in growth have normal birth weight andlength. They grow normally until 6–36 mos of age, whengrowth curves deviate from normal pattern. New growth curves parallelnormal curves but are in lower percentiles for age and gender.

With respect to chronologic age, skeletalage and height age are equally delayed. Although growth spurt isdelayed in puberty, final adult height is within normal range.

Genetic (Familial) Short Stature

Childrenwith genetic short stature follow growth curve ≤2 standard deviations frommean.

Skeletal age (bone age) is similarto chronologic age, but height age (chronologic age correspondingto fiftieth percentile for child's height) is delayed relativeto skeletal age.

There is family history of short stature.Normal acceleration of growth occurs during puberty.

Disorders Primarily Affecting Weight

Intrauterine Growth Disturbance

Infantsare small for gestational age at birth. The earlier in pregnancythe fetus is affected and the more severe the insult, the more likelythat fetal growth will be seriously impaired.

Some more common causes include maternalundernutrition, toxemia of pregnancy, multiple pregnancy, and chronicdrug (heroin, cocaine) and alcohol use.

Undernutrition

Lack ofproper caloric intake is common cause of impaired weight gain. Ifsevere, linear growth is also affected. Common predisposing factorsare poverty, ignorance about proper feeding practices, disturbedparenting relationship including neglect and abuse, and other familypsychosocial problems. Sucking and swallowing disorders also maycontribute to decreased caloric intake (see Chap. 65, Sucking and Swallowing Difficulty).

Illness often results in food refusalor anorexia.

Marasmus and kwashiorkor are extremeforms of undernutrition.

Marasmus is extreme deficit of caloric intake,which also may be associated with protein deficiency.

Kwashiorkor is extreme deficit of proteinintake but also may include caloric undernutrition.

In many children, clinical picturesof marasmus and kwashiorkor merge.

Children with marasmus are cachectic,with severe growth failure.

Physical findings associated with kwashiorkorinclude sparse hair, edema, and sometimes ascites.

Both groups of children experienceapathy and lassitude.

With proper treatment, many improvebut some have psychomotor retardation, especially if severe undernutritionoccurred in early infancy.

Excessive Calorie Wasting

Persistentvomiting may produce calorie wasting and failure to gain weightand grow (see Chap. 55, Regurgitationand Vomiting). Chronic diarrhea including malabsorptionis another cause of calorie wasting (see Chap. 14, Diarrhea).

Wasting of calories can occur in poorlycontrolled diabetes mellitus by loss of carbohydrate through osmoticdiuresis.

Chronic Disease

Many disorders can impair normal growth (seediscussion in other chapters):

Congenitalor acquired heart disease (chronic cardiac failure, cyanotic heartdisease)

Chronic lung disease (severe asthma,cystic fibrosis, bronchopulmonary dysplasia)

Gastrointestinal disease (inflammatorybowel disease, malabsorption disorders)

Chronic renal disease (chronic renalinsufficiency, renal tubular acidosis)

Chronic liver disease

Hematologic disease (severe chronicanemia)

Connective tissue diseases

Neoplastic disease (lymphoma, solidtumors)

Chronic infection (tuberculosis, HIV)

Neurologic disease (severe mental retardation,brain tumor, severe cerebral palsy, diencephalic syndrome, degenerativediseases)

Endocrine disorders (diabetes mellitus,adrenal insufficiency)

Metabolic disorders involving protein,carbohydrate, lipid, and calcium metabolism

Psychologic Disorders

Psychosocial Deprivation

Can leadto impaired growth. Such children generally have parents who havefailed to establish proper nurturing relationship with them as infants.Predisposing factors include psychologic illness (depression, personalitydisorder) and lack of understanding of emotional and physical needsof their children. High incidence of neglect, abuse, divorce, separation,drug use, and alcoholism is found in these families.

Clinical manifestations are apathy,lassitude, lack of enthusiasm and interest in the surroundings,disturbed personal and social relationships, withdrawal and depression,voracious appetite when food is available, and delayed languageand intellectual development. Some children have transient growthhormone deficiency that resolves when placed in more nurturing andstimulating environments and provided with adequate caloric intake.

Anorexia Nervosa

Most commonlyaffects adolescent females. Intense fear of being fat underliesthis illness.

Usual clinical features are historyof extreme dieting and severe weight loss. Physical findings includecachexia, hypothermia, bradycardia, and lowered BP in otherwiseseemingly well person.

History and physical exam are diagnostic.

Depression

1 hallmark is lack of appetite. These individualshave decreased caloric intake and often lose weight. See Chap. 57, School Underachievement and AcademicFailure.

Psychosis

Psychotic illness also can be associatedwith decreased caloric intake and often weight loss.

Disorders Primarily Affecting Skeletal Growth (Height)

Chromosomal Abnormalities

Many autosomalchromosome abnormalities lead to impaired intrauterine and postnatalgrowth. Most common is trisomy 21.

Abnormalities of the X chromosome alsocan cause decrease in linear growth, and most common is Turner syndrome(usual karyotype is 45,X).

Dysmorphic Syndromes

Multiple malformation syndromes of unknowncause can impair growth. Many dysmorphic syndromes also may impairgrowth:

Aarskog

Bloom

Cockayne

de Lange

Donohue

Dubowitz

Ellis-van Creveld

Hallermann-Streiff

Johanson-Blizzard

Noonan

Robinow

Russell-Silver

Rubenstein-Taybi

Seckel

Smith-Lemli-Opitz

Williams

Bone and Cartilage Disorders (Osteochondrodysplasias)

Often canbe distinguished by clinical and radiologic features.

Many of these disorders are associatedwith disproportionate short stature involving decrease in lengthof limbs or trunk.

Disorders with short limbs that areidentifiable at birth:

Achondroplasia

Thanatophoric dysplasia

Chondrodysplasia puntata

Mesomelic dysplasia

Acromesomelic dysplasia

Asphyxiating thoracic dystrophy

Chondroectodermal dysplasia

Achondrogenesis

Campomelic dysplasia

Metatropic dysplasia

Spondyloepiphyseal dysplasia congenita

Cleidocranial dysplasia

Diastropic dysplasia

Metaphyseal dysplasias

Disorders with short limbs that areidentifiable later in life:

Hypochondroplasia

Pseudochondroplasia

Dyschondrosteosis

Acrodystostosis syndrome

Multiple epiphyseal dysplasias

Disorders characterized by individualswith short trunks:

Kniest dysplasia

Spondylometaphyseal dysplasia

Spondyloepiphyseal dysplasias

Definitive diagnosis can be made insome cases by identifying mutations in specific genes.

Endocrine Disorders

Hypothyroidism, glucocorticoid excess, andgrowth hormone deficiency/insensitivity typically producedecrease in linear growth.

Hypothyroidism

Characterizedby low serum thyroxine (T₄) and high TSHlevels.

Despite low serum T₄,newborns may have no physical signs of hypothyroidism. Clinicalfindings that usually appear 1–2 mos after birth includedry skin, constipation, lassitude, cold intolerance, bradycardia,and delayed relaxation phase of deep tendon reflexes. Impaired lineargrowth follows.

Decreased linear growth is also manifestationof acquired hypothyroidism. Most common cause in U.S. is Hashimotothyroiditis. Antithyroid globulin and antimicrosomal antibodiesare usually positive.

Glucocorticoid Excess

Pharmacologictherapy with corticosteroids, cortisol-secreting adrenal tumors,or hypersecretion of adrenocorticotropic hormone can impair lineargrowth.

Clinical manifestations include plumpfacies, obesity, easy bruising, hypertension, osteoporosis, diminishedmuscle mass, weakness, and impaired glucose tolerance.

See Chap.44, Obesity.

Growth Hormone Deficiency/Insensitivity

Growth hormonedeficiency is often idiopathic but may be suspected in childrenwith disorders affecting CNS: hypothalamic/pituitary malformations,head trauma, infections, tumors, or irradiation.

Growth hormone insensitivity is definedas phenotypic growth hormone deficiency but with normal or increasedserum growth hormone levels.

Diminished height is >3 standarddeviations from mean, and height velocity is <4.5 cm/yr.

In children with growth hormone deficiency,serum concentrations of insulin-like growth factor binding protein3 and insulin-like growth factor I are usually low. These peptidesmediate growth-promoting actions of growth hormone and can screenfor deficiency.

Growth hormone testing may be donewith 2 standard provocative tests, and pediatric endocrinologicconsultation is recommended to guide these investigations and theirinterpretation. MRI of hypothalamic and pituitary areas also shouldbe performed.

Diagnostic Approach

Determinewhether problem is primarily one of impaired weight gain, lineargrowth, or combination.

Complete history and physical examshould be performed.

Growth parameters (weight, height,head circumference) should be plotted on growth charts publishedby CDC (2001). All past measurements should also be plotted on thesegrowth curves.

Impaired Weight Gain or Weight Loss

Diagnosisof intrauterine growth disturbance can be made at birth or evensometimes before birth.

History and physical exam provide theclues for further investigation.

Presence of dysmorphic features andabnormal physical findings suggests chromosomal disorders, dysmorphicsyndromes, or multiple malformation syndromes of unknown cause.

Chromosomal karyotype with bandingtechniques should be performed with suspected chromosomal disorder,with unknown constellation of dysmorphic features, or with majorand minor malformations.

Presence of specific major malformation(e.g., hydrocephalus) determines which further diagnostic testsneed to be performed.

If problem is primarily weight gain,history can estimate daily caloric intake. This and other historicinformation along with physical exam is diagnostic in many casesincluding psychologic disturbances.

Inadequate caloric intake is most commoncause of failure to gain weight in otherwise normal child. Withproper counseling and follow-up, mild cases may be treated successfullywithout hospitalization. If child is ill or lack of weight gainis more than mild or psychosocial problems are serious, he or shecan be admitted to the hospital to monitor caloric intake and weightgain, gain more insight and understanding about parents and family,and educate parents about proper nutrition.

Excessive caloric wasting from persistentdiarrhea, polyuria, or vomiting can impair adequate weight gainand also cause weight loss. See Chap.14, Diarrhea; Chap.47, Polyuria and Polydipsia; and Chap. 55, Regurgitation and Vomiting,respectively.

Best screening tests for chronic diseaseare history and physical exam. Tests that can help pinpoint theinvolved organ system include CBC with differential; stool guaiac;serum electrolytes, glucose, creatinine, calcium, and phosphorus;blood urea nitrogen; UA; urine culture; erythrocyte sedimentationrate; liver function tests; chest radiography; sweat test; and endomesial antibodies.

Impaired Skeletal Growth (Height)

Same generaldiagnostic approach described for impaired weight gain should befollowed in cases of impaired linear growth.

Weight, height, and head circumferencemeasurements should be recorded on standard growth charts. Lengthis usually measured from birth until 18 mos of age, whereas heightis commonly measured after this age.

Height velocity charts of Tanner andDavies (1985) can be used to calculate height velocity in cm/yr.

Most common causes of short statureinclude genetic (familial) short stature, constitutional delay,chronic disease of any organ system, and psychosocial deprivation.

In general, diagnostic studies arelimited to short children who are growing at subnormal rate. Ifgrowth rate is normal, significant problem is unlikely.

If history and physical exam do notidentify cause of abnormal growth, certain tests should be considered:CBC with differential; UA including pH and specific gravity; urineculture; erythrocyte sedimentation rate; serum electrolytes, glucose,and creatinine; blood urea nitrogen; T₄ andTSH; insulin-like growth factor-binding protein 3 and insulin-likegrowth factor I; and bone age.

Bone age measurement provides assessmentof skeletal maturation as index of biologic age. Can be determinedby using knee radiograph in infants <3 mos of age and lefthand and wrist in those >3 mos of age and should be performedwith suspected growth hormone deficiency.

Other tests depend on results of theabove findings and suspected diagnosis.

When disproportionate growth is clinicallyobserved, ratio of upper to lower segment may be useful. Lower segmentis measured from pubis to bottom of feet, and this measurement issubtracted from height to give upper segment length. Normal uppersegment:lower segment ratio is 1.7:1 at birth and decreases untilabout age 10 yrs, when it is 1, which approximates normal adultvalue. Disproportionate short limbs or trunk are noted with manyof the osteochondrodysplasias.

Genetic growth potential can be estimatedby the following procedure as noted by Rudolph (1996). Based ongenetic factors alone, predicted adult height should fall within5 cm above or below calculated midparental height. Midparental heightfor girls is calculated as follows: [(father'sheight - 13 cm) + (mother's height)] dividedby 2. Midparental height for boys is calculated as follows: [(mother'sheight + 13 cm) + (father's height)] dividedby 2.

References

1. Anderson MS, Hay WW Jr. Intrauterinegrowth restriction and the small-for-gestational-age infant. In:Avery GB, et al., eds. Neonatology: pathophysiology and managementof the newborn, 5th ed. Philadelphia: Lippincott Williams & Wilkins,2000:411–444.
2. Berwick DM. Nonorganic failure to thrive. Pediatr Rev1980;1:265–270.
3. CDC Growth Charts: United States. U.S. Department ofHealth and Human Services. Centers for Disease Control and Prevention.National Center for Health Statistics. Division of Data Services. Hyattsville,MD, 2001. World Wide Web URL: http://www.cdc.gov/growthcharts.
4. Hall BD. Approach to skeletal dysplasia. Pediatr ClinNorth Am 1992;39:279–305.
5. International Working Group on Constitutional Diseasesof Bone. International classification of osteochondrodysplasias.Eur J Pediatr 1992;151:407–415.
6. Jones KL. Smith's recognizable patterns ofhuman malformation, 5th ed. Philadelphia: WB Saunders, 1997.
7. Rosenfeld RG. Disorders of growth hormone and insulin-likegrowth factor secretion and action. In: Sperling MA, ed. Pediatricendocrinology. Philadelphia: WB Saunders, 1996:117–169.
8. Rosenfeld RG, et al. Diagnostic controversy: the diagnosisof childhood growth hormone deficiency revisited. J Clin EndocrinolMetab 1995;80:1532–1540.
9. Rudolph AM, ed. Rudolph's pediatrics, 20thed. Stamford, CT: Appleton & Lange, 1996.
10. Tanner JM, Davies PSW. Clinical longitudinal standardsfor height and height velocity for North American children. J Pediatr1985;107:317–329.

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Book Source Details

• Book Title: The Diagnostic Approach to Symptoms and Signs in Pediatrics
• Author(s): Paul S. Bellet
• Year of Publication: 2006
• Copyright Details: The Diagnostic Approach to Symptoms and Signs in Pediatrics, Copyright © 2006 Lippincott Williams & Wilkins.

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