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. 2025 Jun 5;20(1):278.
doi: 10.1186/s13023-025-03609-3.

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

Nancy Vegas  1   2   3   4 , Marlène Rio  5 , Pauline Adnot  6   7   8 , Véronique Soupre  8   9 , Florence Petit  10 , Jamal Ghoumid  10 , Annick Toutain  11 , Klaus Dieterich  12 , Isabelle Marey  12 , Brigitte Gilbert-Dussardier  13 , Gwenaël Le Guyader  13 , Christine Francannet  14 , Elise Schaefer  15 , Laurence Perrin  16 , Mathilde Nizon  17 , Claire Beneteau  17 , David Genevieve  18 , Marjolaine Willems  18 , Laurence Faivre  19 , Marianne Grimaldi  19 , Judith Melki  20 , Radka Stoeva  21 , Audrey Putoux  22 , Linda Pons  23 , Karelle Benistan  24 , Jeanne Amiel  25   7   5 , Véronique Abadie  6   7   8
Affiliations

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

Nancy Vegas et al. Orphanet J Rare Dis. .

Abstract

Background: SATB2-associated syndrome (SAS) results from various mutations of the SATB2 gene and associates a neurodevelopmental disorder including major speech delay, intellectual disability, and behavioral problems with dental anomalies, sometimes a cleft palate, risk of osteoporosis, and facial dysmorphism. The principal objective of this study was to describe the oral phenotype of young children with SATB2-associated syndrome, especially in terms of orofacial malformation of Robin Sequence (RS) spectrum (bifid uvula, cleft palate, or RS, dental malformation, feeding and communication, with data from a national cohort. The secondary objective was to determine whether feeding and communication disorders were more severe when associated with an orofacial malformation of RS spectrum.

Methods: We conducted a retrospective cross-sectional study among the largest possible cohort of patients with a mutation of the SATB2 gene in France. A questionnaire completed by the referring physicians and by telephone with parents enabled us to collect the following clinical information: (1) orofacial morphology, feeding difficulties, and pharyngeal functioning from birth to 3 years, (2) communication and language from 0 to 6 years, (3) speech development at the last examination.

Results: The study included 40 patients. Early and persistent feeding difficulties were found in 55% of the children. Communication was abnormal from the first months of life, with poor babbling in 85% of them. A major language delay was described in all patients; 65% had a vocabulary of 10 words or less. An anomaly of RS spectrum was found in half the cases, and dental malformations were described in 90%. Feeding difficulties and language delay were greater in the group with one or more orofacial malformations than the group with none.

Conclusion: This study confirmed the severity of oral involvement, affecting feeding and speech simultaneously, in individuals with SAS. It raises the question of why the oral phenotype involving feeding and speech is more severe in the presence of cleft palate or RS. We recommend close monitoring of prelanguage communication in infants with apparently isolated cleft palate or RS and the search for SATB2 impairment when a cleft palate or RS is found, especially in the prenatal period.

Keywords: Psychomotor delay; Robin sequence; SATB2 syndrome; Speech delay.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Bar chart showing the distribution of ages of the patients in our series
See this image and copyright information in PMC

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