Cat's cry syndrome & Prader willi syndromes

General info about cri du chat and prader willi syndromes.

1. Cat’s cry syndrome Prader-Willi syndrome Mohd Nasiruddin Mansor

2. It was first described by Jérôme Lejeune in 1963 Cat’s cry syndrome ( Cri du chat syndrome/5p- syndrome/ Lejeune’s syndrome) A rare genetic disorder due to a missing part (deletion) of chromosome 5. Affects 1 in 50,000 live births, strikes all ethnicities M ore common in females by a 4:3 ratio

3. Overview -infants produce a high-pitched cry -also carries many disabilities and abnormalities . -some are born with serious organ defects or complications that can result in death - Most fatal complications occur before a child’s first birthday.

4. Most cases of cri-du-chat syndrome are not inherited The deletion occurs most often as a random event Can cri-du-chat syndrome be inherited?

5. A high-pitched cry(abnormal larynx development and CNS ) Low birth weight Feeding problems Severe cognitive , speech, and motor delays Behavioral problems Symptoms

6. Small chin Unusually round face Small bridge of the nose Abnormally wide-set eyes (ocular or orbital hypertelorism ) Hypotonia Low-set ears Short fingers Single palmar creases Cardiac defects ( eg , ventricular septal defect) Symptoms Common findings

7. Severe mental retardation Dropped-jaw, open-mouth expression Malocclusion of the teeth Scoliosis Chronic medical problems( URTI,OM,constipation …) Cleft lip and palate Other symptoms

8. A- 8 months B- 2 years C- 4 years D- 9 years 6 months

9. Diagnosis at birth, based on physical abnormalities and displayed symptoms . X-ray on head to detect abnormalities in the base of the skull MRI,CT,EchoCG To confirm a diagnosis, a chromosome test often will be performed.

10. Diagnosis Fluorescence in situ hybridization (FISH)

11. Patau syndrome(Trisomy- 13) Differential diagnosis Wolf- Hirschhorn syndrome( partial deletion of chromosome 4)

12. No cure is available for cri-du-chat syndrome Speech therapy Behavior modification programs Surgical treatment(cleft palate,congenital heart problems) Treatment

13. A rare, genetic disorder S even genes on chromosome 15 (q 11–13)are deleted or unexpressed on the paternal chromosome . first described in 1956 in Swiss 1 in 10,000 live births. Prader-Willi syndrome P.W

14. Genetics Chromosome 15 An individual without Prader-Willi syndrome receives a chromosome 15 from the mother and another from the father. In Prader-Willi syndrome there are three genetic subtypes: deletion , maternal disomy and imprinting defect .

15. Genetics 1.Deletion(70%) A deletion including the q12 band The imprinted q11-q13 is normally active on the father's chromosome 15 and inactive on the chromosome 15 inherited from the mother.  Therefore , the paternally expressed genes from this region of chromosome 15 are missing in the deleted region of chromosome 15 and Prader-Willi syndrome occurs.

16. both chromosome 15s are inherited from the mother and no chromosome 15 is present from the father . missing chromosome 15 from the father which contains the active genes required for normal development. Genetics 2. Maternal Disomy or UPD (25%)

17. imprinting defect inherited from the father of the chromosome 15 involving the q11-q13 region. normal expression of genes that are active on the chromosome 15 from the father is not allowed Prader-Willi syndrome then occurs Genetics 3. Imprinting defects

18. 1)Infants: Poor muscle tone( hypotonia ) Distinct facial features Failure to thrive .(poor feeding) Lack of eye coordination (strabismus ) Generally poor responsiveness( tired,slow response) Signs and Symptoms Generally occur in 2 stages

19. narrow temples,elongated face, thin upper lip and a prominent nose.

20. 2)Early childhood Food craving and weight gain Underdeveloped sex organs Poor growth and physical development .(low muscle mass) Learning disabilities. Delayed motor development . Speech problems . Behavioral problems. Scoliosis. Signs and symptoms 2nd Stage

21. A -8 month female hypotonia , hypogonadism , and need for assisted feeding B- 19 year old obese male C- 34 year old male(with controlled diet)

22. Diagnosis Based on clinical presentation Genetic testing

23. No cure Treatment is to lessen the symptoms. Physiotherapy during infancy Speech therapy Growth hormone therapy They have high pain tolerance-may unaware of acute gastritis,cholecystitis and appendicitis. Treatment