Diastrophic dwarfism

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Hitchhiker thumb

With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.


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(per page)
PMID (PMCID)
20693580
 FEMALE Child
Diastrophic dysplasia in a seven-year-old girl. Case study.
Szczepaniak-Kubat A, Tesiorowski M, Merc-Golebiowska Z, Jakubowska-Pietkiewicz E.
Ortop Traumatol Rehabil. 2010;12(3):257-63.
Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs.
12901408
 FEMALE Adult
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
Wax JR, Carpenter M, Smith W, Grimes C, Pinette MG, Blackstone J, Cartin A.
J Ultrasound Med. 2003;22(8):805-8.
Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia.