Trigonocephaly-short stature-developmental delay syndrome

Definition

A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.