Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a rare and severe disorder that affects many parts of the body. The condition is characterized by a combination of Hirschsprung disease, which causes problems with bowel movements, and abnormal development of the nails (nail hypoplasia) along with issues in the limbs and face. People with this condition may also have distinctive craniofacial features, such as a flat face, upward slanting eye openings, a narrow area between the nose and upper lip, a narrow and high arched palate, a small lower jaw, and low-set ears with unusual shapes. In addition, some cases have reported the presence of kidney swelling (hydronephrosis). Since the syndrome was last described in 1988, information about it remains very limited.

Common signs of this syndrome include the presence of Hirschsprung disease (which can lead to severe digestive problems), underdeveloped nails, underdeveloped limbs, and unusual facial features. Other symptoms that have been reported include kidney-related issues such as hydronephrosis.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is described as a fatal disorder. The limited information available suggests that the outlook for people with this condition is poor, and there is very little recent data on long-term outcomes.

Research into this syndrome has been minimal since it was last described in 1988. The rarity of the condition has resulted in limited new data, and more studies are needed to better understand its causes and potential treatments.