Associated Conditions

Pierre Robin Sequence and Syndrome (PRS) is a complex condition which can exist on its own or in conjunction with many other genetic and/or syndromic conditions.

Currently, there is no genetic test to determine the cause for PRS.

Statistics suggest that approximately 65% of children diagnosed with PRS are reported to have coexisting syndromes.

These conditions do have a genetic origin with blood tests able to assist in the diagnosis of these conditions. 

If your medical team feels that the existence of an additional condition is likely, you will be referred to a team of genetic specialists to help determine your infants individual diagnosis.

Cleft Palate

In Pierre Robin Sequence, the underdeveloped jaw causes the tongue to become crowded within the mouth. As a result the tongue sits high and is pushed backwards into the airway. The high position of the tongue then interferes with the closure of the palate. The palate is generally formed at around 8-10 weeks gestation, when the two shelves of the palate grow and join at the midline forming the “roof of the mouth”. In infants with PRS, the tongue has been pushed up high into this cavity preventing the joining of the plates, resulting a wide U shaped cleft of the soft and or hard palate.

The cleft palate prevents an infant from creating the suction required to breast feed or to feed from an off-the-shelf bottle. Your feeding team will likely recommend a range of cleft-specific bottles that can be used to feed your child, including the Pigeon Cleft Palate Bottle, the Chu Chu Easy Feed Teat with a MAM Squeeze Bottle and the Biberon Special Feeder or Haberman Speciality Feeder/Medela Special Needs Feeder. Like all babies, it may take a few tries to find the perfect bottle for you and your baby.

As clefts are a much more common birth defect than Pierre Robin Sequence, your local Cleftpals organisation can provide further information, supply bottles and connect you with many families who have experience with clefts:

Stickler Syndrome

Stickler syndrome refers to a group of conditions affecting the connective tissue of the eye, skeleton, inner ear, and/or the head and face. The symptoms are variable but commonly include unusual facial features including a small jaw and abnormalities of the palate, problems with vision and hearing, heart murmurs and problems with the connective tissue of the body and the joints. Some of these features are present at birth (congenital); others develop progressively throughout life.

Stickler syndrome is caused by faulty genes that provide the information for various types of collagen, an important protein in connective tissue and the bones. 

For more information in Australia please contact:
Stickler Syndrome Australia
Web: Join us on Facebook
Email: ssdu@bigpond.com
Phone: (07) 3886 0665

CHARGE Syndrome

CHARGE syndrome is a recognisable (genetic) pattern of birth defects which occurs in about one in every 9,000 to 10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.

Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years.

Despite these seemingly insurmountable obstacles, people with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the determination and strong character these people display.

Velocardial-facial Syndrome (22q11.2 Deletion)

22q11.2 DS is a genetic syndrome (a syndrome means a pattern of features occurring together). It is the most common syndrome associated with cleft palates and the second most common syndrome associated with congenital heart disease.

22q is a multiple anomaly syndrome caused by a submicroscopic deletion of genetic material from the long arm of chromosome 22. In fact, over 180 disorders might occur in 22q11.2DS and they cover nearly every organ system in the body with broad reaching effects on development and behavior, including speech, language, personality, mood, learning, attention, and temperament.

Some associated features include but are not limited to:

• Palate and throat problems
• Heart defects
• Characteristic facial appearance
• Learning difficulties/developmental delay
• Psychiatric disorders
• Renal abnormalities
• Eye problems
• Hearing impairments
• Hypoparathyroidism (low levels of calcium that can result in seizures)
• Immune system deficiency
• Low muscle tone
• Short stature
• Curvature of the spine (scoliosis).