# Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand

## TL;DR

This study in Thailand found that orofacial clefts are often linked to other birth defects and health issues, with differences depending on the type of cleft.

## Contribution

The study provides a detailed analysis of associated conditions in different orofacial cleft subtypes within the Thai population.

## Key findings

- Cleft lip and palate was the most common subtype, followed by isolated cleft palate and isolated cleft lip.
- Respiratory system malformations were the most prevalent associated condition, followed by circulatory and musculoskeletal anomalies.
- Pierre Robin Sequence was strongly associated with isolated cleft palate, and 22q11.2 deletion syndrome was the most frequent syndrome diagnosed.

## Abstract

Orofacial clefts (OFCs) require complex care, which is further complicated by associated congenital anomalies and medical conditions. However, the specific patterns of these associated conditions across different OFC subtypes are not well-characterized in the Thai population. This study aimed to determine the prevalence of OFC subtypes and to analyze the distribution of associated congenital malformations, syndromes, and medical conditions specific to each cleft type.

We conducted a retrospective analysis of 1,187 patients (0–3 years) treated at Tawanchai Cleft Center, Thailand, between 2011 and 2020. Cases were identified using ICD-10 codes and verified through medical records. Data were analyzed to determine OFC subtype prevalence and characterize the distribution of associated congenital malformations, syndromes, and medical conditions.

Cleft lip and palate (CLP) was the most common subtype (49.2%), followed by isolated cleft palate (CP, 28.1%) and isolated cleft lip (CL, 22.7%). A significant portion of patients (45.4%) presented with at least one associated condition. Respiratory system malformations were most prevalent (35.3%), followed by circulatory (12.2%) and musculoskeletal system anomalies (11.1%). The prevalence of associated malformations was highest in the CP group, which was strongly associated with Pierre Robin Sequence (8.2%). Among the 7% of syndromic cases, 22q11.2 deletion syndrome was the most frequent diagnosis (9.6% of syndromic cases). Medically, otitis media (51.7%) and anemia (17.3%) were significant comorbidities across all groups.

Our findings demonstrate that the profile of associated anomalies differs significantly across OFC subtypes. This underscores the necessity for subtype-specific screening protocols and highlights the high burden of comorbidity in this population, directing a multidisciplinary approach for effective management.