Noonan Syndrome

Noonan Syndrome
Synonyms:

  • webbed neck syndrome
  • male Turner syndrome
  • female pseudo-Turner syndrome

Jacqueline Noonan, paediatrician and heart specialist in 1963, published a report on a small group of patients with typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. Its after her that this syndrome has been named.

Noonan syndrome is inherited as an autosomal dominant condition. This means that the Noonan gene is on a non-sex (autosomal) chromosome and is transmitted from parent with a 50% probability to child. Although one dose of the Noonan gene is enough to cause the syndrome. A gene for Noonan syndrome (NS1) has been mapped to chromosome number 12. There are several different Noonan genes.

The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population

 
Main features of this syndrome are:

  • Pulmonary Stenosis
  • Short stature after birth
  • Webbing of Neck
  • Caved in Chest Bones
  • In boys, Testes that do not descend into the scrotum.

Other possible heart defects are hypertrophic cardiomyopathy (thickened heart muscle), atrial septum defect (hole in the wall separating the anterior heart chambers), ventricular septum defect(hole in the wall separating the main heart chambers), septal hypertrophy or a combination of all these defects.

 
Other Facial features that may be present in this syndrome are:

  • Drooping of eyelids.
  • Downwards slanting eyes with arched eyebrows
  • Extra skin fold at the inner angle of the eyes.
  • Increased distance between the eyes.
  • Broad forehead
  • Very Blue or blue green eyes
  • Curly hair
  • Flat broad root of the nose.
  • Short broad neck with skin folds
  • Many pigmented birth marks

Variations occur in the facial features and they change with the age. As the child grows, the face gradually becomes more normal, often more triangular with a high forehead.

 
Other features of this syndrome

  • The birth length and weight of children with Noonan syndrome are often normal. The increase in height in both boys and girls is less than normal throughout the whole growing period.
  • On an average, puberty is delayed by about two years in both sexes.
  • During the first years of life the children may have great feeding and nutrition problems and frequent respiratory tract infections.
  • Only a few children with Noonan syndrome are seriously handicapped. Delayed motor development and speech may be seen in about 25% of the children.
  • Studies have shown that these children’s IQ was within normal limits, though in most cases in the lower range of normal. Mental retardation in approx. 35 %
  • Many of those with Noonan syndrome have a form of visual disturbance, squinting, near sight, or long sight, which may necessitate use of spectacles. The visual disturbance is usually mild.
  • A mild type of hearing impairment has been reported.
  • Children with Noonan syndrome often have dental problems. 1/3 of them have wrongly positioned teeth. The teeth often appear late and in an abnormal order.
  • Repeated attacks of epilepsy have been described in a few cases
  • Reduced fertility in men. Women’s fertility is normal.
 
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This entry was posted in Diseases & Conditions, Genetics and tagged , , by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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