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X-linked chondrodysplasia punctata 2

MONDO:0020603

A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

Also known as: CDPX2, CDPXD, Conrad Hunermann Happle syndrome, Conradi Hunermann syndrome, Conradi Hünermann Syndrome, Conradi-Hunermann syndrome, Conradi-Hunermann-Happle syndrome, Conradi-Hünermann-Happle syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with X-linked chondrodysplasia punctata 2 itself.

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Where it sits in the disease tree

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↑ Hereditary skin disorder (885) ↑ X-linked chondrodysplasia punctata (1)

Including sub-types (1) Tagged with X-linked chondrodysplasia punctata 2 (1)

Trials to join now! 1

New study aims to unlock secrets of rare cholesterol diseases

Knowledge-focused Recruiting now

This 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 19, 2026 00:00 UTC

X-linked chondrodysplasia punctata 2

Where it sits in the disease tree

New study aims to unlock secrets of rare cholesterol diseases