Hirschsprung disease-type D brachydactyly syndrome
MONDO:0016294Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Also known as: Hirschsprung disease with type d brachydactyly, Hirschsprung disease type d brachydactyly, Hirschsprung disease with type D brachydactyly, familial Hirschsprung's disease and type D brachydactyly
11 clinical trials for this condition and its sub-types.
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NIH launches massive GI data bank to fuel future discoveries
Knowledge-focused Recruiting nowThis study aims to collect medical data and biological samples (blood, urine, stool, and tissue) from up to 4,000 adults with known or suspected gastrointestinal diseases. Participants receive standard medical care at the NIH, and any extra samples or leftover tissue from procedu…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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New stomach mapping device could unlock mysteries of Kids' tummy troubles
Knowledge-focused Recruiting nowThis observational study aims to understand stomach electrical activity in children aged 8-25 with digestive issues like slow stomach emptying or chronic pain. Researchers will use a non-invasive device (BSGM) to record stomach signals for up to 4 hours and compare them to health…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC