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Updated: Jan 15, 2026

Novel Sequence Discovery by Subtractive Genomics
Published on: January 25, 2019
Genetic Landscape of Robin Sequence: A Systematic Review.
Shirley van de Velde1, Aebele B Mink van der Molen1, Augusta M A Lachmeijer2
1Department of Pediatric Plastic and Reconstructive Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, the Netherlands.
Robin sequence (RS) genetics is complex, involving various genes and chromosomal issues. Identifying these genetic factors is key for accurate diagnosis and tailored patient care.
Area of Science:
- Genetics
- Pediatrics
- Congenital Disorders
Background:
- Robin sequence (RS) is a congenital condition involving micrognathia, glossoptosis, and airway obstruction.
- It frequently co-occurs with cleft palate and other syndromic conditions.
- The genetic underpinnings of RS are diverse, encompassing both single-gene mutations and larger chromosomal alterations.
Conclusions:
- Accurate and up-to-date genetic testing is crucial for diagnosing RS and guiding clinical management.
- The increasing use of whole genome sequencing (WGS) necessitates advanced phenotype-driven interpretation tools.
- Comprehensive documentation of known and novel RS-associated genes is vital for maximizing WGS diagnostic utility.
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