About pierre robin syndrome

What is pierre robin syndrome?

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate).

Infants with Catel-Manzke syndrome have an extra (supernumerary), irregularly shaped bone (i.e., hyperphalangy) located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; repeated middle ear infections (otitis media); and/or other complications. In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel-Manzke syndrome usually appears to occur randomly, for unknown reasons (sporadically).

What are the symptoms for pierre robin syndrome?

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

Cleft palate, glossoptosis, micrognathia, abnormality of the pharynx, neonatal respiratory distress, upper airway obstruction.

What are the causes for pierre robin syndrome?

Pierre Robin sequence is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: SOX9

What are the treatments for pierre robin syndrome?

Treatment of PRS is multifaceted and individualized, with surgery being performed only to solve the functional problems that a patient may have. Surgical treatments may be indicated for PRS patients with more severe clinical conditions, often those associated with airway impairment.

Infants with PRS should be observed closely for breathing difficulties. Placing the child on his or her stomach (prone position), rather than on his or her back, can help prevent the tongue from falling back toward the throat. If this does not solve the problem of airway obstruction, small tube-like instruments such as a ‘nasopharyngeal airway’ may be inserted into the nose to keep the airways open. If airway obstruction is even more severe, a tube may be inserted in the infant’s throat in hospital (intubation) or, rarely, a surgical opening may be made into the trachea through the neck (tracheostomy) to assist the infant in breathing.

To close the cleft palate, surgery is typically performed between 12 and 18 months of age. Doctors may postpone the corrective surgery, however, to allow the opening in the palate to close on its own as natural growth occurs.

Surgery to improve the appearance of the jaw is rarely necessary because the small lower jaw seen at birth most often grows to a more normal size by 18 months of age. To address feeding-related difficulties, a variety of specially adapted bottles and nipples may be used. If feeding problems are unresolved and severe, a feeding tube may be needed temporarily in order to assist with proper weight gain.

Symptomatic and supportive treatment may be provided using a multidisciplinary team approach, in order to best meet the needs of the affected individual. If speech is impaired, the child should participate in speech therapy or be monitored by a speech pathologist. Ear, nose, and throat doctors (otolaryngologists) and audiologists can provide follow-up on ear- and hearing-related issues. Surgically placed drainage tubes may be recommended if ear infections are recurrent. A combination of orthodontists, maxillofacial surgeons, and dentists may work together to monitor the oral cavity, for example by looking to avoid crowding of the teeth and to ensure proper tooth alignment. Ophthalmology may be consulted to monitor for ocular abnormalities. Genetic counseling may be of benefit for patients and their families.

What are the risk factors for pierre robin syndrome?

The exact causes of Pierre Robin syndrome are unknown. Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence.

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