Michels Caskey syndrome

Last updated
Stratton-Parker Syndrome
Other namesMullerian aplasia with hypoplastic thumbs
Specialty Orthopedic

Michels Caskey syndrome is a rare disorder that combines spinal and skeletal abnormalities, especially of the thumbs, with abnormal or absent female reproductive organs. Examples include the absence of a cervix and upper vagina or abnormalities of the uterus or vagina. Symptoms may also include scoliosis and primary amenorrhea. Synonyms include hypoplastic thumb Mullerian aplasia, and Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities. [1]

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References

  1. "Michels Caskey syndrome". Genetic and Rare Disease Information Center. Retrieved 2012-08-19.