Hirschsprung disease-hearing loss-polydactyly syndrome
MONDO:0009342An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
Also known as: Santos-Mateus-Leal syndrome, Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness, Hirschsprung disease with polydactyly, renal agenesis, and deafness, Hirschsprung disease, deafness and polydactyly, Hirschsprung disease-deafness-polydactyly syndrome, Santos Mateus Leal syndrome
11 clinical trials for this condition and its sub-types.
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Simple drug may cut infection risk after major gut surgery
Disease control CompletedThis study tested whether tranexamic acid, a drug that helps blood clot, can lower the chance of infection after gastrointestinal surgery. Over 3,300 adults at higher risk for complications took part. The goal was to see if the drug reduces surgical site infections compared to a …
Phase: PHASE4 • Sponsor: Bayside Health • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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Can an online wellness program ease anxiety in chronic disease?
Symptom relief CompletedThis study tested a 12-week online mind-body program for adults with chronic conditions like heart failure, cancer, and liver disease. The program included mindful movement, meditation, breathwork, and coping skills. Researchers measured changes in anxiety, depression, fatigue, a…
Phase: NA • Sponsor: University of Alberta • Aim: Symptom relief
Last updated Jun 27, 2026 12:31 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Kids' laxative study reveals how body handles the drug
Knowledge-focused CompletedThis study measured levels of the laxative PEG 3350 and its breakdown products in the blood and urine of 158 children who were already taking it, compared to children not taking it. The goal was simply to learn how the body processes this medicine, not to change any treatments. R…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC