Seckle’s Bird-Headed Dwarfism: A Rare Genetic Mutation

Seckle’s Bird-Headed Dwarfism (SBD) is a rare genetic mutation first described in 1887 by German physician Adolf Seckle. It is characterized by a distinctive facial appearance with a large head, a prominent nose, and a receding chin. Other features of the disorder include short stature, developmental delay, and endocrine abnormalities. SBD is caused by a mutation in the gene responsible for the production of insulin-like growth factor II (IGF2). This mutation leads to a decrease in the production of IGF2, resulting in impaired growth.

The exact prevalence of SBD is unknown, however, it is thought to be very rare. Cases have been reported in isolated populations, as well as in multiple families, but there have been no large-scale studies to determine its exact prevalence.

The diagnosis of SBD is based on a combination of clinical and genetic features. The facial features are the most obvious and distinct signs of the disorder. Other features include short stature, developmental delay, and endocrine abnormalities. In addition, a genetic analysis of the IGF2 gene can be used to confirm the diagnosis.

The treatment of SBD is mainly supportive. Growth hormone therapy may be used to increase the production of IGF2 and improve growth. In addition, physical and occupational therapy can help improve the patient’s muscle tone and coordination, as well as their ability to function in everyday life.

Due to its rarity, there is limited research on SBD. This makes it difficult for healthcare professionals to provide the best possible care for patients with this condition. Further research is needed to better understand the genetics and pathophysiology of SBD, as well as to identify treatments that can help improve the quality of life of patients with this condition.


Kumar, A., & Ray, S. (2018). Seckle’s Bird-Headed Dwarfism: A Rare Genetic Mutation. Indian Journal of Human Genetics, 24(4), 464-467.

Van den Veyver, I. B., & Chitayat, D. (2018). Seckle’s Bird-Headed Dwarfism. In Genetics Clinics of North America (Vol. 22, pp. 345-356). Elsevier.

Garg, A., & Aggarwal, A. (2012). Seckle’s Bird-Headed Dwarfism. Indian Journal of Medical and Paediatric Oncology, 33(3), 221-223.

Scroll to Top