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Michels Caskey syndrome

MONDO:0043131

Also known as: Mullerian aplasia with hypoplastic thumbs, Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities

5 clinical trials for this condition and its sub-types, 0 tagged with Michels Caskey syndrome itself.

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Where it sits in the disease tree

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Part of

↑ 46,XX disorder of sex development (0)

Including sub-types (5) Tagged with Michels Caskey syndrome (0)

Trials to join now! 4 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused By invitation only

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC