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

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized 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).

Also known as: pituitary hormone deficiency, combined, type 4, CPHD4, pituitary hormone deficiency, combined 4, pituitary hormone deficiency, combined with or without cerebellar defects, pituitary hormone deficiency, combined, 4, pituitary hormone deficiency, combined, with or without cerebellar defects, short stature, pituitary and cerebellar defects and small sella turcica, short stature, pituitary and cerebellar defects, and small sella turcica

1 clinical trial for this condition and its sub-types, 0 tagged with Short stature-pituitary and cerebellar defects-small sella turcica syndrome itself.