Al Gazali Hirschsprung syndrome
Synonyms
1
Overview
A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies
Symptoms
- Enlarged colon
- Stillbirth
- Small jaw
- Recessed jaw
- Low-set ears
- Infant death
- Underdeveloped ends of fingers
- Underdeveloped fingernails
- Hyperconvex fingernails
- Abnormal ear shape
- Severe constipation
- Intestinal blockage
- Abnormal ear structure
- High vaulted palate
- Narrow palate
- Ureteric reflux
- Thin toenails
- Underdeveloped toenails
- Thin fingernails
- Duplicated urinary collection system
- Urethral anomalies
- Abnormality of the fingernails
- Aganglionic megacolon
- Hypoplastic toenails
- Short distal phalanx of finger
Diagnosis
Other causes of intestinal obstruction should be discussed when abdominal distension and failure to pass meconium occur in a newborn infant:
- meconium ileus resulting from cystic fibrosis;
- intestinal malformations such as lower ileal and colonic atresia, isolated or occasionally associated with HSCR
Treatment
The treatment of HSCR is surgical. After careful preoperative management, the underlying principle is to place the normal bowel at the anus and to release the tonic contraction of the internal anal sphincter. Since the initial protocol of Swenson described in 1948,4 a series of operative approaches, such as the Soave and Duhamel procedures, have been developed