Saethre-Chotzen Syndrome (SCS) is a rare congenital craniosynostosis syndrome characterized by craniofacial anomalies, limb abnormalities such as syndactyly, and varying degrees of developmental and cognitive delays. While its genetic and structural features are well-documented, there is limited literature detailing the communication characteristics associated with the condition. This case report describes the comprehensive speech, language, developmental, and auditory profile of an 8-year-old male child presenting with phenotypic features strongly suggestive of SCS, although genetic testing was not conducted. The child was referred to the Department of Speech-Language Pathology with parental concerns of unclear speech, poor academic performance, and bilateral hearing difficulties. A detailed evaluation using standardized protocols was undertaken. Orofacial examination revealed a broad forehead, vertical facial asymmetry, repaired cleft lip and palate, hypertelorism, nasal deformities, thin upper lip, scarred philtrum, absence of philtral ridges, short columella, and maxillary hypoplasia. Additionally, syndactyly was present on the right hand. Language assessment indicated significant delays in both receptive and expressive domains. The COMDEALL protocol revealed below-age performance across gross motor, fine motor, cognitive, emotional, and daily living domains. Voice evaluation revealed hypernasality. Audiological assessments confirmed bilateral mild-to-moderate conductive hearing loss with absent DPOAEs and delayed ABR latencies. Though a genetic diagnosis could not be established, the clinical profile closely resembled SCS. This report underscores the importance of early, interdisciplinary evaluation and intervention for children with craniofacial anomalies and suspected syndromic presentations to support optimal communication and developmental outcomes.

Keywords: Cleft lip and palate, conductive hearing loss, intellectual disability, language, Saethre-Chotzen syndrome

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1. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, et al. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002;110(2):136–143.
2. Díez de los Ríos Quintanero B, Gracia Rojas E, Ortiz Movilla R, Cabrejas Núñez MJ, Marín Gabriel MÁ. Saethre-Chotzen syndrome: A case report. Arch Argent Pediatr. 2021;119(2):e129–e132.
3. Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK. Saethre-Chotzen syndrome: A report of 7 patients and review of the literature. Ann Plast Surg. 2020;85(3):251–255.
4. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: A case report. Cleft Palate Craniofac J. 2010;47(3):318–321.
5. Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, et al. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: A 15-year review. Plast Reconstr Surg. 2009;123(6):1801–1810.
6. De Heer IM, De Klein A, Van Den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, et al. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg. 2005;115(7):1894–1902.
7. Gallagher ER, Ratisoontorn C, Cunningham ML. Saethre-Chotzen syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington; 1993. p. 1–20.
8. Cohen MM. Craniosynostosis: Diagnosis, evaluation, and management. 1st ed. New York (NY): Raven Press; 1986. p. 1–250.
9. Da Costa AC, Walters I, Savarirayan R, Anderson VA, Wrennall JA, Meara JG. Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. Plast Reconstr Surg. 2006;118(1):175–181.
10. Rosen H, Andrews BT, Meara JG, Stoler JM, Mulliken JB, Rogers GF. Audiologic findings in Saethre-Chotzen syndrome. Plast Reconstr Surg. 2011;127(5):2014–2020.
11. Lee S, Seto M, Sie K, Cunningham M. A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. Cleft Palate Craniofac J. 2002;39(1):110–114.
12. Ensink RJ, Marres HA, Brunner HG, Cremers CW. Hearing loss in the Saethre-Chotzen syndrome. J Laryngol Otol. 1996;110(10):952–957.
13. Basavaraj V, Venkatesan S. Ethical guidelines for bio behavioral research involving human subjects. 1st ed. Mysore (IN): All India Institute of Speech and Hearing; 2009. p. 1–40.
14. Kummer AW. Cleft palate and craniofacial anomalies: Effects on speech and resonance. 3rd ed. Clifton Park (NY): Cengage Learning; 2014. p. 1–450.
15. Kritzinger A, Louw B, Rossetti LM. A transdisciplinary conceptual framework for the early identification of risks for communication disorders in young children. S Afr J Commun Disord. 2001;48:33–44.

Saethre-Chotzen Syndrome (SCS) is a rare congenital craniosynostosis syndrome characterized by craniofacial anomalies, limb abnormalities such as syndactyly, and varying degrees of developmental and cognitive delays. While its genetic and structural features are well-documented, there is limited literature detailing the communication characteristics associated with the condition. This case report describes the comprehensive speech, language, developmental, and auditory profile of an 8-year-old male child presenting with phenotypic features strongly suggestive of SCS, although genetic testing was not conducted. The child was referred to the Department of Speech-Language Pathology with parental concerns of unclear speech, poor academic performance, and bilateral hearing difficulties. A detailed evaluation using standardized protocols was undertaken. Orofacial examination revealed a broad forehead, vertical facial asymmetry, repaired cleft lip and palate, hypertelorism, nasal deformities, thin upper lip, scarred philtrum, absence of philtral ridges, short columella, and maxillary hypoplasia. Additionally, syndactyly was present on the right hand. Language assessment indicated significant delays in both receptive and expressive domains. The COMDEALL protocol revealed below-age performance across gross motor, fine motor, cognitive, emotional, and daily living domains. Voice evaluation revealed hypernasality. Audiological assessments confirmed bilateral mild-to-moderate conductive hearing loss with absent DPOAEs and delayed ABR latencies. Though a genetic diagnosis could not be established, the clinical profile closely resembled SCS. This report underscores the importance of early, interdisciplinary evaluation and intervention for children with craniofacial anomalies and suspected syndromic presentations to support optimal communication and developmental outcomes.

Keywords: Cleft lip and palate, conductive hearing loss, intellectual disability, language, Saethre-Chotzen syndrome

🔒 This is a subscription article

Full text is available to subscribers and institutional members. Please choose an option below to access it.

1. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, et al. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002;110(2):136–143.
2. Díez de los Ríos Quintanero B, Gracia Rojas E, Ortiz Movilla R, Cabrejas Núñez MJ, Marín Gabriel MÁ. Saethre-Chotzen syndrome: A case report. Arch Argent Pediatr. 2021;119(2):e129–e132.
3. Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK. Saethre-Chotzen syndrome: A report of 7 patients and review of the literature. Ann Plast Surg. 2020;85(3):251–255.
4. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: A case report. Cleft Palate Craniofac J. 2010;47(3):318–321.
5. Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, et al. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: A 15-year review. Plast Reconstr Surg. 2009;123(6):1801–1810.
6. De Heer IM, De Klein A, Van Den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, et al. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg. 2005;115(7):1894–1902.
7. Gallagher ER, Ratisoontorn C, Cunningham ML. Saethre-Chotzen syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington; 1993. p. 1–20.
8. Cohen MM. Craniosynostosis: Diagnosis, evaluation, and management. 1st ed. New York (NY): Raven Press; 1986. p. 1–250.
9. Da Costa AC, Walters I, Savarirayan R, Anderson VA, Wrennall JA, Meara JG. Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. Plast Reconstr Surg. 2006;118(1):175–181.
10. Rosen H, Andrews BT, Meara JG, Stoler JM, Mulliken JB, Rogers GF. Audiologic findings in Saethre-Chotzen syndrome. Plast Reconstr Surg. 2011;127(5):2014–2020.
11. Lee S, Seto M, Sie K, Cunningham M. A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. Cleft Palate Craniofac J. 2002;39(1):110–114.
12. Ensink RJ, Marres HA, Brunner HG, Cremers CW. Hearing loss in the Saethre-Chotzen syndrome. J Laryngol Otol. 1996;110(10):952–957.
13. Basavaraj V, Venkatesan S. Ethical guidelines for bio behavioral research involving human subjects. 1st ed. Mysore (IN): All India Institute of Speech and Hearing; 2009. p. 1–40.
14. Kummer AW. Cleft palate and craniofacial anomalies: Effects on speech and resonance. 3rd ed. Clifton Park (NY): Cengage Learning; 2014. p. 1–450.
15. Kritzinger A, Louw B, Rossetti LM. A transdisciplinary conceptual framework for the early identification of risks for communication disorders in young children. S Afr J Commun Disord. 2001;48:33–44.