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

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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).
Uniprot Description Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica.
Mondo Term and Equivalent IDs
MONDO:0009880:  short stature-pituitary and cerebellar defects-small sella turcica syndrome
GARD:0010604: 
MESH:C567492: 
Orphanet:85442: 
UMLS:C2678408: