Short stature-pituitary and cerebellar defects-small sella turcica syndrome

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Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature anterior pituitary hormone deficiency small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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