Introduction

Catel-Manzke syndrome is a rare bone disease characterised by two-sided hyperphalangy (extra finger bone) and clinodactyly (abnormal bending) of the index finger. In 80% of the cases, Catel-Manzke syndrome (CMS) is associated with Pierre Robin sequence, which includes micrognathia, cleft palate and glossoptosis. Pierre Robin sequence or syndrome (PRS) is an uncommon type of birth defect. Babies with this disorder may experience underdevelopment of the jaws and breathing difficulties. It is possible for their tongues to fall to the back of their throats. It can range from mild to severe. For some babies, no treatment is needed, but others may require surgical intervention and ongoing care. This variability underscores the importance of individualised care in managing Catel-Manzke syndrome when Pierre Robin sequence is present.

Understanding Pierre Robin sequence

Pierre Robin syndrome arises during foetal development. A newborn may have trouble breathing, nursing, or bottle-feeding due to a combination of anomalies in the jaw and mouth. PRS is rare, affecting approximately 1 in 8500 individuals. Based on outwardly observable characteristics and symptoms, the majority of newborns receive a diagnosis soon after birth. Medical professionals will offer treatment recommendations and doable actions to promote the baby's well-being. 

The precise cause of PRS is unknown to experts. The order or sequence in which a foetus's facial structure develops can be altered by specific genetic changes that occur during foetal development. The development of the foetus's jaw opens the sequence.

• The problem causes the foetus's tongue to move up and back when the jaw doesn't develop normally
• The tongue of a foetus returns to the upper airway when it is not in the proper position
• Because the roof of the foetus's mouth cannot seal, a foetus may have a cleft palate as a result, due to the foetus's tongue blocking it

Due to this series of occurrences, medical professionals refer to the condition as Pierre Robin sequence. Additionally, airway blockage can cause life-threatening problems, including congestive heart failure, hypoxemia (low blood oxygen), pulmonary hypertension, and severe respiratory distress, including potential airway loss, if your kid has a severe type of PRS. Although facing these risks can be daunting, it is comforting to know that the baby's medical team will closely monitor for any complications and take prompt action to identify and address any issues that may come up. If there are any serious problems, their diligent attention helps certain your kid gets the best treatment possible.

Overview of Catel-Manzke syndrome

Genetic basis

Genetic mutations, also known as pathogenic variations, are the cause of Catel-Manzke syndrome. These mutations may arise spontaneously during cell division or may be inherited from parents. TGDS (13q32.1) mutations have been implicated as causal factors in Catel-Manzke syndrome. Furthermore, environmental variables, including UV radiation exposure, illnesses, or a combination of these, can cause genetic alterations. It is advised to collect your family's medical history if you suspect that you or your baby may have CMS. It is also crucial to tell your healthcare physician about any exposure to potential environmental risk factors, the timing of symptom start, and any family members who have experienced similar symptoms. There are resources available to help with arranging and recording family health data for medical consultations. 

Symptoms

As early as newborn stage, this condition may start to show symptoms. Depending on the condition, patients may experience the onset of symptoms at different ages. Knowing the onset date of symptoms can assist medical professionals in establishing an accurate diagnosis by providing crucial hints. These symptoms include: 

• Abnormal cardiovascular system structure 
• Abnormal epiphysis (the enlarged end of a long bone) structure
• Atrial septal defect
• Camptodactyly of finger(s) 
• Chronic ear infections
• Cleft palate

The role of PRS in CMS

Along with the syndrome's hallmark two-sided hyperphalangy and clinodactyly of the index fingers, PRS is regarded as one of the main diagnostic criteria for CMS due to the strong correlation between the two conditions. The typical triad of micrognathia, glossoptosis, and cleft palate is the manifestation of the PRS component. In affected infants, this can result in severe respiratory obstruction, feeding difficulties, and failure to thrive. Distinctive features of the face and head bones are typical of the syndrome. This association is not merely coincidental but rather seems to be intrinsically linked to the underlying genetic process.^1,2

Due to PRS directly affecting patient treatment and long-term results, its clinical importance in CMS goes much beyond mere anatomical problems. In addition to possible tracheostomy for severe airway obstruction, gastrostomy tube placement for feeding issues, and specialised multidisciplinary care involving neonatology, otorhinolaryngology, and plastic surgery teams, infants with these conditions frequently need prompt and intensive medical intervention. There is a wide range in the severity of PRS symptoms in CMS; some individuals may have milder presentations that can be treated conservatively, while others may have life-threatening respiratory issues that require immediate surgical intervention. To maximise results for children with this uncommon disease, this diversity emphasises the value of customised treatment plans and the requirement for specialised facilities skilled in treating complicated craniofacial symptoms.^2,3

Management strategies

Conservative airway management strategy

Conservative, non-surgical measures that can successfully treat mild to moderate airway blockage are the first line of treatment for Pierre Robin sequence in Catel-Manzke syndrome. The foundation of initial care is prone posture, which has been shown to improve upper airway patency in 40–70% of patients by using gravity to shift the tongue and lower jawbone forward. Nasopharyngeal airways, which provide mechanical stenting of the airway and have been shown to be beneficial in about 59% of patients who fail positional therapy, are the next step in conservative management. Careful positioning during feeding to maximise nutrition and airway safety, specialised feeding techniques using compression-based bottle systems, and continuous positive airway pressure or non-invasive ventilation to maintain airway patency are additional conservative measures. The underlying anatomical problems may be resolved without the need for surgery thanks to this conservative approach, which is especially beneficial because it permits natural lower jawbone catch-up growth, which normally happens between the ages of 18 and 24 months.^4,5,6

Surgical intervention strategy

In order to guarantee proper growth and development and avoid potentially fatal consequences, surgical procedures are required when conservative therapy is ineffective or when there is severe airway obstruction. In order to treat the underlying micrognathia and glossoptosis, mandibular distraction osteogenesis (MDO), which involves gradually lengthening the lower jawbone through controlled bone distraction, has become the recommended surgical technique. According to studies, MDO is better than other surgical treatments, such as tongue-lip adhesion. About 80% of newborns fulfil feeding goals within two weeks following extubation, and the majority can complete full oral feeding by 11 days after the operation. In the most extreme situations, tracheostomy may be necessary as a life-saving procedure. Other surgical techniques include tongue-lip adhesion (glossopexy), which temporarily joins the tongue to the lower lip to promote airway patency. MDO is very useful in avoiding the need for a tracheostomy or allowing its removal in children who previously needed one, although the surgical approach necessitates careful patient selection and scheduling. To guarantee thorough care and optimal results, a multidisciplinary team approach combining pediatric otolaryngologists, plastic surgeons, anesthesiologists, and professional feeding therapists is crucial.^5,7,8

Summary

About 80% of individuals with Catel-Manzke syndrome, which is a rare genetic condition marked by two-sided hyperphalangy and clinodactyly of the index finger, have Pierre Robin sequence. The three conditions that make up PRS—micrognathia, cleft palate, and glossoptosis can seriously impair a newborn's ability to breathe and feed. Mutations in the TGDS gene on chromosome 13q32, which impact both skeletal and craniofacial development during fetal growth, are the cause of the condition. From moderate to life-threatening, symptoms can start as early as the newborn stage and require customised treatment strategies. For mild cases, conservative management treatments include prone positioning and specialised feeding procedures. For severe cases, surgical interventions like tracheostomy or mandibular distraction osteogenesis may be necessary. A multidisciplinary team approach is essential for optimal patient care and outcomes.