Brachycephalofrontonasal dysplasia
Overview
Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
Symptoms
* Hypertelorism * Prominent forehead * Heavy eyebrows * Broad eyebrows * Widow's peak * Short nose * Depressed nasal bridge * Small hands * Broad hands * Mild webbed fingers * Shawl scrotum * Antimongoloid slant * Long palpebral fissures * Long philtrum * Fifth-finger clinodactyly * Reduced muscle tone * Umbilical anomalies * Droopy upper eyelid * Omphalocele * Atrial septal defect * Patent ductus arteriosus * Undescended testes * Kidney anomalies * Protruding eyes * Thin upper lip * Everted lower lip * Small chin * Sunken chest * Umbilical hernia
Causes
* Broad hands * Depressed nasal bridge * Everted lower lip * Fifth-finger clinodactyly * Kidney anomalies * Long philtrum * Patent ductus arteriosus * Prominent forehead * Protruding eyes * Reduced muscle tone * Shawl scrotum * Short nose * Small hands * Sunken chest * Thin upper lip * Umbilical hernia