X-linked dominant chondrodysplasia, Chassaing-Lacombe type

MONDO:0010463

A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

Also known as: X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome, chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant, chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

1 clinical trial for this condition and its sub-types, 1 tagged with X-linked dominant chondrodysplasia, Chassaing-Lacombe type itself.

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Where it sits in the disease tree

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↑ Hereditary disease (18235) ↑ Syndromic disease (7158)

Including sub-types (1) Tagged with X-linked dominant chondrodysplasia, Chassaing-Lacombe type (1)

Terminated 1

Scientists dive into rare cholesterol disorders to uncover clues

Knowledge-focused Stopped early

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 14, 2026 00:00 UTC

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Where it sits in the disease tree

Scientists dive into rare cholesterol disorders to uncover clues