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).
MONDO:0013099
combined pituitary hormone deficiencies, genetic form
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
CPHD4
related
pituitary hormone deficiency, combined 4
related
pituitary hormone deficiency, combined with or without cerebellar defects
related
pituitary hormone deficiency, combined, 4
related
pituitary hormone deficiency, combined, type 4
exact
short stature, pituitary and cerebellar defects and small sella turcica
related