Seckel syndrome

Seckel syndrome-1 or “bird-headed dwarfism”, is a Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. The typical features of this syndrome include facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic, dental and extremity anomalies were also associated. In addition to these characteristics, craniofacial dysmorphism and skeletal defects, abnormalities in the cardiovascular, hematopoietic, endocrine, gastrointestinal and central nervous system were also present. Usually, such patients have poor psychomotor development. With an etiological based treatment, psychotherapist support, genetic counseling, regular pediatric follow-up, quarterly odontostomatological and ophthalmological follow- up, the syndrome shall be managed.