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GTR Home > Conditions/Phenotypes > Short stature-pituitary and cerebellar defects-small sella turcica syndrome

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

Synonyms
LHX4-Related Combined Pituitary Hormone Deficiency; Pituitary hormone deficiency, combined 4; Pituitary hormone deficiency, combined with or without cerebellar defects; Short stature, pituitary and cerebellar defects and small sella turcica
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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 <i>LHX4</i> gene (1q25). [from ORDO]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPHD4, LHX4
    Summary: LIM homeobox 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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