Greenberg dysplasia
MONDO:0008974A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
Also known as: Greenberg dysplasia, hem dysplasia, hydrops-ectopic calcification-motheaten syndrome, skeletal dysplasia, Greenberg type, GRBGD, Greenberg skeletal dysplasia, autosomal recessive lethal chondrodystrophy with congenital hydrops, chondrodystrophy, hydropic and prenatally lethal type
3 clinical trials for this condition and its sub-types.
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New study aims to unlock secrets of rare cholesterol diseases
Knowledge-focused Recruiting nowThis natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 18, 2026 07:00 UTC
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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
Knowledge-focused Recruiting nowThis study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…
Phase: NA • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC