Emanuel Syndrome

Emanuel syndrome is a genetic birth disorder which affects normal growth and development in an individual .Weak muscle tone, failure to gain weight , profound intellectual impairment are some of the apparent symptoms of this disorder. This chromosomal disorder is rare with less than 200 cases on medical records reported.

Symptoms of Emanuel syndrome:

Babies born with Emanuel syndrome exhibit several problems their physical and mental health. Some children may not show any symptoms.

  • Small size of head
  • Small lower jaw
  • Heart defects
  • Mental deficiencies
  • Cleft palate
  • Cardiac abnormalities
  • Misshapen ears
  • Low muscle tone
  • Underdeveloped kidneys

Children with Emanuel syndrome are usually smaller than average size and weight at birth. Physical examination may reveal the above typical signs with other signs like:

  • Deep set eyes
  • Low set ears
  • Irregular teeth
  • Dislocatable hips
  • Inguinal hernia
  • Small head and jaw
  • Kidney abnormalities
  • Abnormalities in male genital organ
  • Dimple above the buttocks
  • Flat feet
  • Severe mental retardation

Emanuel syndrome is confirmed using a chromosome test. 95 per cent of the cases in herit an extra chromosome from the mother and 5 per cent inherit the extra chromosome from the father.


Children with Emanuel syndrome have weak muscle tone. This combined with a cleft palate makes feeding the child a very difficult proposition. Food may need to be mashed and fed to the child till such age that the child gains some measure of muscle control. In cases where the child needs to gain weight, a tube may be placed directly in the stomach.

Children also suffer from reflux where the food ingested flows back into the stomach instead of flowing further into the intestines. Constipation is another problem, to be solved with a high fibre diet or use of mild laxatives.

Children with Emanual syndrome have weak muscle control. Most children with this disorder learn to walk by 5 years of age. Once they are mobile, they need constant physiotherapy to strengthen their muscles. At this stage, they can be provided with a wheelchair or some form of motorised transport.

Children with Emanual syndrome suffer some degree of intellectual impairment. The disorder combined with a cleft palate and auditory disabilities mean that the child learns to speak with great difficulty. Frequent ear infections are another complication in children with Emanual syndrome.

About half the children diagnosed with Emanual syndrome suffer from seizures. These seizures can be managed with proper medication.

Children with Emanual syndrome find it difficult to thrive and gain weight. Such children have very low resistance levels and are prone to frequent infections. Antibodies to help fight infections are transfused on a regular basis to help such children develop resistance to common diseases. About 70 percent of children born with this disorder learn to walk without support eventually.

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