Pituitary hormone deficiency, combined 4
Other Names: CPHD4; 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-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).
NIH genetic and rare disease info[edit source]
Pituitary hormone deficiency, combined 4 is a rare disease.
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