This document summarizes the features and management of CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. Key characteristics include colobomas of the eye, heart defects, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities. Diagnosis is made through genetic testing and imaging studies. Management requires a multidisciplinary approach including airway management, feeding support, cardiac and ear surgeries, and treatment of complications.

2. Group of birth defects , that cause by an Autosomal
Domiant Genetic disorder, typically CAUSED BY :
Mutation in CHD7 gene .

3. syndrome
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4. History in patients with CHARGE syndrome :
- Intrauterine growth retardation ( IUGR ).
- Polyhydramnios .
- poor fetal movements .
- Congenital heart defects .
- Orofacial clefting.

5. - Small of gestational age .
- Dysmorphic features : Asymmetrical, square face ;
malar flattening ; unilateral facial nerve paralysis ;
micrognathia ( undersized lower jaw ); low-set ,cupped
ears.
- Respiratory distress / cyanosis.
- Feeding difficulty .
-Failed hearing screening .
- Inability to pass nasogastric tube .

6. - IN GENERAL ,The eye coloboma may be affect Anterior
segment ( lens  kay-hole ), or posterior segment of the eye (
ie, choroid , retina , optic disc) , and may be unilateral or
bilateral .
- IN THIS SYNDROME ,Usually bilateral & affect posterior
segment of the eye .

7. Cont.
- The coloboma of the posterior segment Result from
incomplete closure of the optic fissure during 2nd
month of the embryonic life . And typically located in
the inferior nasal quadrant.
- Coloboma that doesn’t involve the Fovea ,doesn’t
affect the vision.
- Microphthalmia( abnormally small one /both eyes ) &
nystagmus  usually present with severe cloboma .
- Retinal detatchment  is the frequent
COMPLICATION of the posterior segment coloboma .

8. MOST FREQUENTLY :
- Septal defects : ( interventricular ,,interatrial ).
- Conotruncal malformation : ( aortic valve stenosis ,
aortic coarctation , interrupted aortic arch ).
OTHERS :
- PDA , TOF

9. - it’s may be membranous or bony , and bilateral in
over 50% of cases .
- Usually presenting in with respiratory distress .
- Its presence indicate poor
prognosis & necessitates
Surgical correction .

10. -IUGR
- Growth failure in the 1st 6 months of life , due to
endocrinal causes ( eg, growth hormone deficiency ,
gonadotrophin deficiency ), and feeding causes (
feeding difficulty with poor caloric intake ).

11. - Usually Affect the patients with severe coloboma and
inner ear problems .
- Poor vision & hearing , RESULT IN the absence of
visual & auditary cues , THAT ARE ESSENTAIL for EARLY
motor development.
- VESTIBULAR function abnormalities  affect the
adaptation of upright posture , LEADING TO motor
developmental delay .

12. - In the MALES : micropenis , and ( either ) cryptorchid
( undescended testis ) or complete absence of testis .
- In the FEMALES : labial hypoplasia , that is difficult to
identify in the neonatal period .
-The cause is suggested as , Hypogonadotrophic
hypogonadism secondary to pituitary / hypothalamic
causes.

13. - Small ,low set & cup-shaped ears.
- The external ear malformation are more on the side
of the facial palsy & may be related to denervation
early in the developmental process of the ear.

14. - Usually bilateral & mixed type .
- Inner ear abnormalities : mondini malformation ,
partial or complete semicircular canal hypoplasia
/aplasia
- Vestibular /cochlear nerves defect , lead to
sensorineural deafness .
- Middle ear problems : ossicular malformation ,
stapedius tendon abnormality or serous effusion , cause
conductive hearing loss.
- CT scan of temporal bone  demonstrate
partial/complete semicircular canal hypoplasia .

15. - Cranial nerves palsy ( mainly facial , also auditory )
- glossopharyngeal & vagus nerves
- microcephaly
- neonatal brainstem dysfunction ( feeding &
swallowing difficulty )

16. Cont.
- Cerebellar vermis hypoplasia (cardio-vascular
rgulation during movement & posture changes ).
- Hand dysmorphology : brachydactyly , clinodactyly ,
syndactyly .
- Orofacial clefting : cleft lip & palate ( 30 -50 % )

17. Cont.
- Limb anomalies : 1/3 of patients :
- J-shaped hocky-stick palmar creases
- square palms .
- hypoplastic nails .
- tibial aplasia

18. - Renal : hydronephrosis
- Larynx : laryngomalasia , laryngeal cleft .
- Esophageal : atresia , tracheoesophageal fistula .
- Skeletal : hemivertebrae , scoliosis , clinodactyly .

20. LAB :
- CHD7 mutation Analysis  Diagnostic in more than 90% of
the cases .
- Chromosomal analysis
- BUN , creatinine , electrolytes  monitor renal function .
- Luteinizing Hormone Releasing Hormone & Human Chorionic
Gonadotropin  to evaluate gonadal axis in case of
hypogenitalism .
- CBC & immunology studies ( immunodeficiency has been
reported & it is primarily T-cell based ).

21. Cont.
IMIGING :
- Chest radiography : to exclude cardiopulmonary
pathology
- Cranial US : in the immediate neonatal period  to
exclude major malformation of the brain .
- Head CT / MRI , including temporal bone :  to
exclude cerebral malformation, atrophy , midline brain
defects

22. (a) Axial CT shows bilateral bony and
membranous choanal atresia.
(b) Axial MRI shows bilateral eye
colobomas (arrowheads).
(c) Coronal MRI shows that the olfactory
apparatus is absent on the right, but intact
on the left (curved arrow).
(D) Axial CISS (constructive interference in
steady state) image shows bilateral absent
semicircular canals and hypoplastic
vestibules (white arrows).

23. cont.
- Barium swallow :  to diagnose : swallow
dysfunction , esophageal dysmotility , tracheal
aspiration .
- Abdominal US : for renal anomalies .
- Skeletal survay .
- Echocardiography .

24. Cont.
Others :
- EEG  seizures.
- Immune system evaluation .
-Serial audiometry & auditory brainstem evoked
response .
- Visual evoked response & electroretinogram.

25. MEDICAL CARE :
- At birth , provide a secure airway , stabilize & exclude
major life-threatening congenital anomalies .
- If airway establishment does not correct cyanosis 
CHD most likely cause .
- NGT  for swallowing difficulty.
- Artificial tears  to avoid corneal scarring in cases of
facial palsy .
- in males ; androgen therapy  for penile growth.

26. Cont.
Surgical care :
- Tracheostomy .
- Myringotomy & Tympanostomy  for otitis media .
- Gastrostomy  in feeding difficulties .

27. Complications :
- Eye : corneal ulcers ( due to facial palsy ) , retinal
detachment.