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Genetic survey of a group of children with clefting: implications for genetic counseling
Y Hofstee1, N Kors, R C Hennekam
1Streekziekenhuis Midden-Twente, Hengelo, The Netherlands.
Insights
Cleft lip and palate often occur with other anomalies. Careful evaluation of affected children is crucial for accurate diagnosis and genetic counseling, impacting recurrence risks for families.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Clinical Genetics
Background:
- Cleft lip and palate (CLP) are common congenital anomalies.
- A significant proportion of CLP cases are associated with other medical conditions or syndromes.
Purpose of the Study:
- To inventory associated anomalies in a consecutive cohort of children with clefts.
- To assess the impact of associated anomalies and family history on genetic counseling for CLP patients.
Main Methods:
- Retrospective review of 36 children with clefts referred to a multidisciplinary cleft team.
- Detailed clinical evaluation for associated anomalies and dysmorphic features.
- Analysis of family history for clefting and its implications.
Main Results:
- Associated anomalies were identified in 47.2% of the children with clefts.
- Syndromic diagnoses were established in some cases.
- Positive family history for clefting was noted in 17 patients, influencing recurrence risk assessment for five siblings.
Conclusions:
- Children with cleft lip and palate require thorough clinical evaluation for associated anomalies.
- Identifying associated conditions and family history is vital for precise genetic counseling and management.
- Early and comprehensive assessment aids in understanding recurrence risks for affected families.
Abstract:
A cleft lip, cleft palate, or both are associated with a high frequency of other anomalies. This study gives an inventory of associated anomalies in a consecutive group of children (n = 36) with clefts, referred to a local multidisciplinary cleft team in the Netherlands. In 47.2% of cleft patients associated anomalies were found, allowing diagnosis of provisionally unique syndromes or known entities. In 17 patients family history was positive for clefting; in five patients (13.9%) this influenced the occurrence risks for siblings. Both findings had an effect on genetic counseling of the parents of these children. Additional evidence is provided that all children with clefting should be carefully evaluated by a trained clinician for additional anomalies, including dysmorphic features.