Seckel syndrome: A rare cause of primordial dwarfism – A case report from Bangladesh

Sadia Jahan Shammee; Md. Faruq; Anannya Das; Halima Tus Sadia; Nargis Akther; Ismat Ara Tithi; Maraz Hossain Chayan; Md. Abu Saif  Chowdhury; Farhana Akter

Authors

Sadia Jahan Shammee FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0001-3421-3974
Md. Faruq FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0007-2989-3286
Anannya Das FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0005-7369-8168
Halima Tus Sadia FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0006-4622-639X
Nargis Akther FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0002-3992-9725
Ismat Ara Tithi FCPS Part II Trainee, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0009-1962-5493
Maraz Hossain Chayan FCPS Part II Trainee, Department of Medicine, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0009-0006-8757-1085
Md. Abu Saif Chowdhury University of Science and Technology Chittagong, Chittagong, Bangladesh https://orcid.org/0009-0002-8441-1319
Farhana Akter Professor and Head, Department of Endocrinology and Metabolism, Chittagong Medical College Hospital, Chittagong, Bangladesh https://orcid.org/0000-0002-4488-9388

Keywords:

Autosomal recessive, Clinodactyly, Microcephaly, Primordial dwarfism, Seckel syndrome

Abstract

Seckel syndrome is an extremely rare genetic disorder characterized by intrauterine growth restriction, postnatal growth failure, microcephaly, proportional short stature and distinctive facial features. Skeletal abnormalities, dental abnormalities, and varying degrees of intellectual disability are commonly associated findings. We report the case of a 4-year-6-month-old girl born to non-consanguineous parents who presented with severe short stature and delayed developmental milestones. She had a history of intrauterine growth restriction and prematurity. Clinical examination revealed proportionate short stature, severe microcephaly, micrognathia, dental crowding, clinodactyly, and delayed bone age. Laboratory evaluation, including thyroid function tests and growth hormone stimulation testing, was unremarkable. Neuroimaging and echocardiography, as well as ultrasonography of the whole abdomen, showed no structural abnormalities. Based on clinical evaluation and radiological findings, our diagnosis is Seckel syndrome. Seckel syndrome should be suspected in children with severe proportionate growth failure, microcephaly, and developmental delay. Early assessment to identify associated systemic abnormalities and long-term multidisciplinary follow-up helps optimize growth, development, and quality of life. This case highlights the importance of careful clinical evaluation in diagnosing rare genetic growth disorders in resource-limited settings.

[J Assoc Clin Endocrinol Diabetol Bangladesh, July 2026; 5 (2): e90172]

Abstract
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