The presentation of Prader-Willi syndrome depends upon the age of the patient.

In fetal life:

• Reduced fetal movements and abnormal position
• Polyhydramnios 
• Requirement for caesarean section

In neonates and children:

• Feeding difficulties (poor suckling reflex)
• Delayed developmental motor milestones
• Delayed onset of speech
• Thick saliva
• Weak cry
• Excessive sleeping
• Hypotonia [2]
• Lethargy
• Short stature
• Light colored hair
• Small hands and feet
• Skin hypopigmentation 
• Strabismus
• Scoliosis
• Hypopituitarism
• Kyphosis
• Cryptorchidism
• Failure of development of secondary sexual characteristics and delayed puberty
• Cognitive impairment
• Mental retardation
• Persistent hunger feeling
• Acquired obesity (secondary to overeating)

In adults:

• Infertility
• Hypogonadism
• Learning difficulties
• Physical appearance typical of PWS
• Gastrointestinal abnormalities
• High threshold for pain
• Behavioral problems (temper tantrums, obsessive–compulsive disorder (OCD), etc.)
• Psychosis
• Secondarily acquired diseases (cor pulmonale, diabetes mellitus)

• Short Stature

  PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive [geneticdiseasefoundation.org]

  People with PWS have short stature, small hands and feet, and intellectual disability. Consult your healthcare provider or genetic counselor for more information on uniparental disomies. [urmc.rochester.edu]

  People with Angelman syndrome have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. [childrensnational.org]

• Weight Gain

  Newborns are often small and floppy Male infants may have undescended testicles Other symptoms may include: Trouble feeding as an infant, with poor weight gain Almond-shaped eyes Delayed motor development Narrowed head at the temples Rapid weight gain [mountsinai.org]

  The overeating often results in rapid weight gain, obesity, and type 2 diabetes. People with PWS have short stature, small hands and feet, and intellectual disability. [urmc.rochester.edu]

• Weakness

  RESULTS: Fourteen boys and six girls presented with hypotonia, poor responsiveness, feeding difficulty, and infrequent, weak crying. [ncbi.nlm.nih.gov]

  Babies born with PWS have poor muscle tone and a weak cry. They initially are slow feeders and appear undernourished. The feeding problems improve after infancy. [urmc.rochester.edu]

• Feeding Difficulties

  Conclusion: Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. [ncbi.nlm.nih.gov]

  In infancy, PWS is characterized by low muscle tone (hypotonia), feeding difficulties, poor growth and delayed development. In early childhood, affected children develop an extreme appetite, which often leads to overeating and obesity. [childrensmercy.org]

  At birth and in infancy, hypotonia (floppiness), sleepiness and feeding difficulties are usually present. Thereafter, hypotonia lessens, feeding difficulties stop and hyperphagia (over eating) begins, usually between the ages of two to four years. [contact.org.uk]

• Infertility

  Until recently, experts believed that people with PWS were infertile. [nichd.nih.gov]

  The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. [ncbi.nlm.nih.gov]

  Males and females have hypogonadism, most fail to develop secondary sexual development, and have infertility. Individuals with PWS have short stature, characteristic facial features, and have special medical needs. [med.unc.edu]

• Overeating

  Changes in behaviour may also become evident over time with tantrums, stubbornness and mood swings occurring. Treatment There is no cure for Prader Willi syndrome. [brainfoundation.org.au]

  Rate of Growth Slows In addition to overeating, the child with Prader-Willi stops growing at a normal rate. The child gradually becomes short for his/her age, and because of overeating becomes excessively overweight. [rarediseases.about.com]

  Prader-Willi syndrome (PWS) is characterized by extreme floppiness at birth, impaired sexual development, short stature, severe over-eating, characteristic physical features and learning disabilities (LD). [ncbi.nlm.nih.gov]

  The overeating often results in rapid weight gain, obesity, and type 2 diabetes. People with PWS have short stature, small hands and feet, and intellectual disability. [urmc.rochester.edu]

• Failure to Thrive

  Prader-Willi (PWS) is a neurogenetic disorder in which individuals first present with severe hypotonia and infantile failure to thrive, but later develop severe hyperphagia that leads to morbid obesity. [kerafast.com]

  Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism. [ncbi.nlm.nih.gov]

  The two main genetic causes and other rarer cause of PWS all involving chromosome 15 give rise to a pattern of atypical early development characterised by extreme floppiness and failure to thrive at birth with the subsequent emergence of severe over-eating [ipwso.org]

• Insatiable Hunger

  This is presumed to be the basis of the insatiable hunger and obesity of patients with the syndrome. □ Growth hormone, growth hormone‐releasing hormone, hypothalamus, insatiable hunger, obesity, oxytocin, perinatal problems, Prader—Willi syndrome The [onlinelibrary.wiley.com]

  Along with insatiable hunger, symptoms of the condition include: mild to moderate intellectual impairment and learning disabilities, behavioral problems, sleep abnormalities, and usually infertility. [medicaldaily.com]

  It is typically characterized by low muscle tone, short stature (when not treated with growth hormone), incomplete sexual development, cognitive disabilities, behavioral problems, and the hallmark characteristics – chronic feelings of insatiable hunger [pwsausa.org]

  Published January 25. 2020 1:02PM | Updated January 26. 2020 12:55AM By Tim Cook Cami Grundy, 21, of Groton lives with a rare disorder called Prader-Willi Syndrome, a condition that along with learning disabilities creates an insatiable hunger in the [theday.com]

  This compelling one-hour documentary follows four families – each with children living with Prader-Willi Syndrome (PWS) - also known as insatiable hunger. [youtube.com]

• Increased Appetite

  Our current research is investigating the gastric emptying speed as a possible contributor to increased appetite. Our Prader-Willi syndrome research [garvan.org.au]

  Increased appetite usually starts during childhood and can be gradual. [youtube.com]

  The increased appetite also means there is an increased risk of choking on food, so carers of a child with Prader-Willi syndrome are advised to learn what to do if someone is choking. [nhs.uk]

• Malocclusion

  The patient was diagnosed with an Angle Class II malocclusion and a skeletal Class II jaw-base relationship with a deep overbite. [ncbi.nlm.nih.gov]

• Blonde Hair

  Someone with PWS may also be born with distinct facial features including almond-shaped eyes, a narrowing of the head, a thin upper-lip, light skin and hair (50% of people have fair skin, blonde hair and blue eyes, regardless of what their family members [hwns.com.au]

  Around half of all children with Prader-Willi syndrome will have fair skin, blonde hair and blue eyes, regardless of what their family members look like.Children with Prader-Willi syndrome are delayed in all aspects of development, reaching developmental [betterhealth.vic.gov.au]

  The child usually has blue eyes and blond hair. They tend to lag behind other children in the transition to solid food. [patient.info]

• Fair Complexion

  There were no facial dysmorphic features except that he had fair complexion. He had bilateral gynecomastia. Both hands and feet were relative small (Figure 1). There was only scanty axillary and pubic hair. [hindawi.com]

• Almond-Shaped Eyes

  […] include: Mild to moderate intellectual disability Sleep abnormalities Delayed or incomplete puberty Scoliosis Short stature Unusually fair skin Underdeveloped genitals Strabismus Small hands and feet Distinctive facial features such as a narrow forehead, almond-shaped [childrensmercy.org]

  The clinical appearance of PWS includes dysmorphic facial features with almond-shaped eyes, a narrow bifrontal diameter, and a thin upper lip; short stature; central obesity; and small hands and feet. [ncbi.nlm.nih.gov]

  Characteristic facial features (a narrow forehead, almond-shaped eyes, a thin upper lip and down-turned mouth), as well as very small hands and feet, are frequently observed. [orpha.net]

  Dysmorphic findings in a child with Prader-Willi syndrome include narrowing of the temples, almond-shaped eyes, strabismus, and a thin upper lip. Figure 1. [aafp.org]

• Strabismus

  Strabismus was present in 25 (54%) patients: 22 (48%) patients had esotropia and three (7%) had exotropia. Nine patients either received or required strabismus surgery. [ncbi.nlm.nih.gov]

  Other signs and symptoms of PWS may include: Mild to moderate intellectual disability Sleep abnormalities Delayed or incomplete puberty Scoliosis Short stature Unusually fair skin Underdeveloped genitals Strabismus Small hands and feet Distinctive facial [childrensmercy.org]

  Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry. [eyewiki.aao.org]

  Dysmorphic findings in a child with Prader-Willi syndrome include narrowing of the temples, almond-shaped eyes, strabismus, and a thin upper lip. Figure 1. [aafp.org]

• Esotropia

  Strabismus was present in 25 (54%) patients: 22 (48%) patients had esotropia and three (7%) had exotropia. Nine patients either received or required strabismus surgery. [ncbi.nlm.nih.gov]

  He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. [jfmpc.com]

  […] obsessive-compulsive behavior, stubbornness, rigidity, stealing, and lying Sleep disturbance or sleep apnea Short stature by age 15 years (based on the individual family) Hypopigmentation Hands and feet small for height/age Narrow hands with straight ulnar border Esotropia [arupconsult.com]

  Eye abnormalities (esotropia, myopia). Thick, viscous saliva ± crusting at mouth corners. Speech articulation defects. Skin picking. Other features which may be present, many of them related to problems of the hypothalamus: High pain threshold. [patient.info]

  […] scrotum, and small testes in males; hypoplastic labia minora and clitoris in females; and pubertal deficiency) Infantile central hypotonia Rapid weight gain between 1 and 6 years of age Minor criteria Decreased fetal movement and infantile lethargy Esotropia [aafp.org]

• Reduced Fetal Movement

  In fetal life: Reduced fetal movements and abnormal position Polyhydramnios Requirement for caesarean section In neonates and children: Feeding difficulties (poor suckling reflex) Delayed developmental motor milestones Delayed onset of speech Thick saliva [symptoma.com]

  Prenatal Development Most pregnancies of children with PWS are uneventful, though reduced fetal movement is noted in the majority of PWS pregnancies. [ncbi.nlm.nih.gov]

• Small Hand

  hands and feet, mild dysmorphology, and behavior problems which can be severe. [curlie.org]

  People with PWS have short stature, small hands and feet, and intellectual disability. Consult your healthcare provider or genetic counselor for more information on uniparental disomies. [urmc.rochester.edu]

  Other signs and symptoms of PWS may include: Mild to moderate intellectual disability Sleep abnormalities Delayed or incomplete puberty Scoliosis Short stature Unusually fair skin Underdeveloped genitals Strabismus Small hands and feet Distinctive facial [childrensmercy.org]

• Osteoporosis

  Osteoporosis is a major concern in scoliosis surgery. Our aim was to investigate bone mineral density (BMD) in PWS patients and to verify the efficacy of and scoliosis deterioration with growth hormone (GH) administration for osteoporosis. [ncbi.nlm.nih.gov]

  Osteoporosis. Osteoporosis causes bones to become weak and brittle, so they may break easily. [mayoclinic.org]

  and ongoing monitoring and management of osteoporosis. [copeds.com]

• Muscle Hypotonia

  Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger. [rarediseases.about.com]

  (hypotonia) learning difficulties lack of sexual development behavioural problems, such as temper tantrums or stubbornness Read more about symptoms of Prader-Willi syndrome. [nhs.uk]

  USA) Infants - if an infant has pronounced hypotonia (poor muscle tone) with poor suck. Children aged 2 to 6 years - if the child has a history of poor suck, as well as general developmental delays. [web.archive.org]

  […] in part, plays a role in muscle hypotonia and weakness. [medicalhomeportal.org]

• Round Face

  (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation [icd9data.com]

  (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental [fpnotebook.com]

  face/full cheeks (55%), and skull features (53%). [frontiersin.org]

  Affected individuals also have mild-moderate intellectual impairment, hypogonadism, and characteristic facies consisting of a narrow bifrontal diameter, almond-shaped eyes, a round face, and downturned corners of the mouth. [medscape.com]

• Low Forehead

  (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation [icd9data.com]

  (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental [fpnotebook.com]

  He also presented low forehead, almond-shaped eyes, thin upper lip, high-arched palate, small hands, tapering fingers and hepatomegaly. Blood exams were normal. An abdomen ultrasound scan revealed the presence of fatty liver disease. [ijponline.biomedcentral.com]

• Hunger

  PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive [geneticdiseasefoundation.org]

  People with PWS have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety. [pwsausa.org]

  A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. [mayoclinic.org]

  Prader-Willi Syndrome (PWS) is a two stage, complex genetic disorder affecting the hypothalamus of the brain, causing a chronic feeling of hunger that can lead to excessive eating and morbid obesity. [upwsa.org]

• Compulsive Behavior

  Management of Behavioral Issues Many kids who have Prader-Willi syndrome experience the following issues with emotions and behavior: Anxiety. Emotional outbursts. Mood changes. Obsessive or compulsive behaviors. Stubbornness. [gillettechildrens.org]

  Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. [ncbi.nlm.nih.gov]

  Behavioral problems are common, including temper tantrums, stubbornness, and compulsive behavior. Many affected individuals also have sleep abnormalities. [medicinenet.com]

• Emotional Outbursts

  Management of Behavioral Issues Many kids who have Prader-Willi syndrome experience the following issues with emotions and behavior: Anxiety. Emotional outbursts. Mood changes. Obsessive or compulsive behaviors. Stubbornness. [gillettechildrens.org]

  Does Your Child Have Emotional Outbursts? See a Full List of Topics! [thedoctorstv.com]

  outbursts and physical aggression Read more about symptoms of Prader-Willi syndrome. [nhs.uk]

  Additional symptoms that affect your child’s development and behavior include: Temper tantrums, emotional outbursts or stubbornness. Problems with cognitive development (intellectual disability). Obsessive or compulsive behaviors like skin picking. [my.clevelandclinic.org]

• Mood Swings

  Changes in behaviour may also become evident over time with tantrums, stubbornness and mood swings occurring. Treatment There is no cure for Prader Willi syndrome. [brainfoundation.org.au]

  […] to develop other symptoms such as: an insatiable appetite, leading to excessive weight gain if not controlled being short for their age small hands and feet mild intellectual disability poor social and emotional skills behavioural problems, such as mood [healthdirect.gov.au]

  Psychotropic medications may help with obsessive-compulsive symptoms and mood swings if behavior management alone is not enough. Physical and occupational therapy help promote motor development along with growth hormone. [med.umich.edu]

• Behavior Problem

  They also have small stature, hands, and feet, behavioral problems, and persistent hypotonia. PWS is most often caused by deletion of the paternally-inherited allele of 15q11-q13. From the laboratories of Stormy J. [kerafast.com]

  These disorders can result in excessive daytime sleepiness and worsen behavior problems. Other signs and symptoms. [mayoclinic.org]

  problems within the clinically significant range. [ncbi.nlm.nih.gov]

• Tantrums

  Important improvements were achieved and maintained including weight loss, decreased need for supplemental oxygen, greater exercise tolerance, and fewer tantrums. [ncbi.nlm.nih.gov]

  Changes in behaviour may also become evident over time with tantrums, stubbornness and mood swings occurring. Treatment There is no cure for Prader Willi syndrome. [brainfoundation.org.au]

  […] incomplete puberty Scoliosis Short stature Unusually fair skin Underdeveloped genitals Strabismus Small hands and feet Distinctive facial features such as a narrow forehead, almond-shaped eyes and a triangular mouth Behavioral problems including temper tantrums [childrensmercy.org]

  Behavioral problems are common, including temper tantrums, stubbornness, and compulsive behavior. Many affected individuals also have sleep abnormalities. [medicinenet.com]

• Neonatal Hypotonia

  Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. [ncbi.nlm.nih.gov]

• Seizure

  This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed. [ncbi.nlm.nih.gov]

  They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than 1 from the mother, and 1 from the father). [urmc.rochester.edu]

  They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than one from the mother, and one from the father). [childrensnational.org]

• Sleep Disturbance

  Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials. [ncbi.nlm.nih.gov]

  Some of the behaviors which are common to both Prader-Willi Syndrome and autism are: delays in language and motor development, learning disabilities, feeding problems in infancy, sleep disturbances, skin picking, temper tantrums, and a high pain threshold [autism.com]

  The neurobehavioral phenotype in individuals with PWS includes hyperphagia, temper tantrums, aggression, specific repetitive and ritualistic behavior, stealing and lying, skin picking, mood and sleep disturbances. [genedx.com]

  disturbances Poor bone health Scoliosis Decreased sensitivity to pain Poor control of body temperature Gastrointestinal issues including decreased motility and gastroparesis Self-injurious behavior such as skin picking Increased risk of central adrenal [youtube.com]

  Behavioral features in childhood include temper tantrums, high pain threshold, sleep disturbances, and skin picking. [aafp.org]

• Cryptorchidism

  Features included cryptorchidism in 94% males, preterm birth (26%), birthweight 28 days: 1-12 months in seven; and 3.75-10.5 years in five. [ncbi.nlm.nih.gov]

  […] obesity Hyperphagia Characteristic facial features – narrow bifrontal diameter, almond-shaped palpebral fissures, downturned mouth Hypogonadism manifestations Genital hypoplasia Females – small labia minora and clitoris Males – hypoplastic scrotum and cryptorchidism [arupconsult.com]

• Clitoral Hypoplasia

  Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Brain imaging abnormality 0410263 Central adrenal insufficiency 0011734 Central sleep apnea 0010536 Clitoral [rarediseases.info.nih.gov]

  History See the list below: Infants with Prader-Willi syndrome (PWS) commonly exhibit hypotonia, poor suck (with requirement of gavage feedings), weak cry, and genital hypoplasia (eg, cryptorchidism, scrotal hypoplasia, clitoral hypoplasia). [37] Neonatal [emedicine.medscape.com]

  PWS females are born with hypoplasia of the external genitalia with labia minora and clitoral hypoplasia in up to 76% (24). [tp.amegroups.com]

  Hypogonadism with genital hypoplasia (cryptorchidism, scrotal or clitoral hypoplasia) can be identified in the newborn period. [ijpeonline.biomedcentral.com]

  labia minora and/or clitoral hypoplasia 76%, primary amenorrhea 56%, spontaneous menarche (mostly spotting) 44% of those older than 15 years; in both sexes: premature pubarche 14%, and precocious puberty 3.6% (one male and two females). [nature.com]

• Small Scrotum

  All 14 boys had a small scrotum, including nine with cryptorchidism. Diagnoses were made with microarray comparative genomic hybridization. All 20 infants required feeding tubes. [ncbi.nlm.nih.gov]

Diagnosis is established with the help of the following investigations.

• Prenatal DNA testing for gene abnormalities
• Southern blotting for DNA methylation patterns
• Polymerase chain reaction (PCR)
• Parental DNA sampling for disomy
• Fluorescent in situ hybridization (FISH)
• Chorionic villus sampling and amniocentesis
• Screening tests for serum insulin like growth factor-1 (IGF-1), growth hormone levels and glycosylated hemoglobin
• Thyroid function tests
• Magnetic Resonance Imaging (MRI) in case of (hypopituitarism)
• Serial dual energy x-ray absorptiometry (DEXA) scanning (osteoporosis)
• X-ray of the chest
• Abdominal ultrasonography
• Computerized Tomography (CT) scans

There is no cure for Prader-Willi syndrome as it is a gene defect. The treatment is done for the management of acute symptoms of the disease [3]. It consists of the following.

• Symptomatic management of the following conditions is done to minimize morbidity.
  
  • Obesity [4] [5] [6]
  • Hypogonadism [7]
  • Hypopituitarism
  • Behavioral problems [8]
  • Hypotonia
  • Ophthalmologic abnormalities

• Growth hormone therapy helps improve the skeletal and muscle defects of Prader-Willi syndrome, in particular hypotonia [9][10].
• Vitamin D supplementation in these patients is associated with good results.
• Surgical management of respiratory difficulties may be indicated if the symptoms are severe. Tracheostomy may need to be done.
  
  

The condition is associated with development of secondary disorders like diabetes mellitus which can lead to comorbidities. Gastric and respiratory problems may lead to death. The overall prognosis is poor.

The syndrome arises due to deletion of genes on the chromosome 15 in the region 15q11-13 along with gene imprinting in maternal chromosomes [1]. Mutations or translocation of the genes may also give rise to Prader-Willi syndrome.

Prader-Willi syndrome occurs in about 1 in 10,000 to 1 in 25,000 newborns. The occurrence of this disease is sporadic. It affects male and females equally. No gender, racial or ethnic predisposition has been found.

The syndrome is not heritable as this is an acquired anomaly of the embryonic life. However, rare genetic changes in Prader-Willi syndrome can be passed on. Recurrence of the syndrome in siblings is uncommon.

Deletion of genes on the chromosome 15 in the region 15q11-13 leads to this abnormality. The underlying gene defect can occur by any of the three pathways:

• Deletion of genes in the paternal chromosomes.
• Genomic imprinting (and resultant silencing) of corresponding genes in the maternal chromosomal set.
• Uniparental disomy (UPD) can be another of the mechanisms of gene defects.

These genes usually code for certain small nucleolar RNAs (snoRNAs) which have regulatory as well as other functions.
Loss of SNORD116 gene cluster and OCA2 genes is common in Prader-Willi syndrome. This leads to hypopigmentation of skin and hair that is associated with the disorder.

Hypothalamic dysfunction underlies most of the symptoms of Prader-Willi syndrome, leading to disturbances of sleep-wake cycles, sexual characteristics, hunger and satiety, pain and temperature sensations.

The following measures should be adopted in order to minimize the morbidity from Prader-Willi syndrome.

• Parental genetic counseling should be done.
• Due to poor muscle power, neonates should be handled and picked up carefully.
• Strict dietary control should be observed for prevention of obesity. A balanced diet should be followed. All essential nutrients should be made a part of diet. Access of child to food should be restricted to prevent bouts of overeating and to keep their weight in check.
• Muscle activity like sports should be encouraged to overcome hypotonia and motor problems.
• Steroid therapy should be avoided as it tends to exacerbate the behavioral dysfunction
• Monitoring of children should be done to prevent respiratory and gastric difficulties.
• A strict sleeping routine should be followed to avoid daytime sleepiness and other sleep-related abnormalities.
• Behavioral problems should be handled with patience. If needed, psychiatric help should be sought.
• Parental screening tests should be carried out to assess the risk of recurrence of the disease with further pregnancies.

Prader-Willi syndrome (PWS), also known as Prader-Labhart-Willi syndrome, is a rare genetic disorder that arises due to genetic abnormalities. It is a multiphasic disorder that can lead to obesity in children.

Delayed onset of development is commonly observed in the cases of PWS. Behavioral and cognitive problems are also common in such children along with some degree of intellectual deficit.

Prader-Willi syndrome (PWS) develops as a result of genetic abnormalities due which the child suffers from late speech development, decrease muscle power, insatiable hunger and overeating bouts, obesity, excessive sleeping, weakness and mental retardation. Short stature and short hands and feet are typical of PWS. Growth retardation is common and such children fail to thrive. Puberty is delayed in patients of Prader-Willi syndrome and infertility is common.

Testing should be done to check for gene abnormalities before birth so that appropriate measures can be taken beforehand. The disease is rarely passed onto the next generation and is compatible with life but a lot of abnormalities develop in such patients. Presence of Prader-Willi syndrome in one child does not mean that further pregnancies will result in recurrence of the syndrome.

1. Cassidy SB. Prader-Willi syndrome. Characteristics, management, and etiology. The Alabama journal of medical sciences. Apr 1987;24(2):169-175.
2. Witkowski R, Ullrich E, Pietsch P, et al. [Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome]. Psychiatrie, Neurologie, und medizinische Psychologie. May 1985;37(5):255-261.
3. Zipf WB. Prader-Willi syndrome: the care and treatment of infants, children, and adults. Advances in pediatrics. 2004;51:409-434.
4. Altman K, Bondy A, Hirsch G. Behavioral treatment of obesity in patients with Prader-Willi syndrome. Journal of behavioral medicine. Dec 1978;1(4):403-412.
5. De Peppo F, Di Giorgio G, Germani M, et al. BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits. Obesity surgery. Nov 2008;18(11):1443-1449.
6. Scheimann A, Butler MG, Stevenson D, Miller JL, Cuffari C, Klish WJ. "Efficacy of laparoscopic sleeve gastrectomy as a stand-alone technique for children with morbid obesity" and "BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits". Obesity surgery. May 2009;19(5):671-672; author reply 673.
7. Eiholzer U, Grieser J, Schlumpf M, l'Allemand D. Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome. Hormone research. 2007;68(4):178-184.
8. Benarroch F, Hirsch HJ, Genstil L, Landau YE, Gross-Tsur V. Prader-Willi syndrome: medical prevention and behavioral challenges. Child and adolescent psychiatric clinics of North America. Jul 2007;16(3):695-708.
9. Hoybye C, Hilding A, Jacobsson H, Thoren M. Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clinical endocrinology. May 2003;58(5):653-661.
10. Craig ME, Cowell CT, Larsson P, et al. Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clinical endocrinology. Aug 2006;65(2):178-185.