Seckel syndrome (bird-headed dwarf syndrome; virchow-seckel dwarfism; ateliosis; intrauterine growth retardation; low-birth-weight dwarfism; nanocephalic dwarfism; primordial dwarfism)

General: Autosomal recessive; syndrome shows variations in phenotypic appearance; both sexes affected; present at birth.

Ocular: Widely spaced eyes; incomplete eyebrow; strabismus; horizontal nystagmus; bilateral macular coloboma with pigmentation and umbilicated appearance; disk hypoplasia.

Clinical: Dwarfism; cranial deformity (bird head); developmental anomalies with short arms and clawlike hands; skeletal anomalies with narrow chest and beading of ribs; facial deformities with hypoplasia of maxilla and mandible; beaklike protrusion of central face; sparse hair; absent thumb; malformation of genitourinary tract and rectum; birdlike malformation of the face and further abnormalities; cardiac anomalies; hypophyseal hypoplasia; association with Legg-Calve Perthes disease.

Di Blasi S, et al. Seckel's syndrome: a case report. J Med 1993; 24:75-96.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976, p.389.

Rappen U, von Brenndorff AL. Kardiale Symptomatik kei 2 Patienten mit Seckel-Syndrom. Monatschr Kinderheilkd 1993; 141:584-586.

Seckel HPC. Bird-headed dwarfs. Springfield, IL: Charles C. Thomas, 1960.