/short stature-pituitary and cerebellar defects-small sella turcica syndrome

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

Rare Disease

MONDO:0009880

Also Known As

pituitary hormone deficiency, combined, type 4CPHD4pituitary hormone deficiency, combined 4pituitary hormone deficiency, combined with or without cerebellar defectspituitary hormone deficiency, combined, 4pituitary hormone deficiency, combined, with or without cerebellar defectsshort stature, pituitary and cerebellar defects and small sella turcicashort stature, pituitary and cerebellar defects, and small sella turcica

Definition

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).