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Hypopituitarism - postaxial polydactyly

Orpha number ORPHA2245
Synonym(s) Culler-Jones syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Culler-Jones syndrome is a very rare disease characterized by the association of hypopituitarism and postaxial polydactyly. Other dysmorphic signs (microcephaly, face, hand and foot anomalies) are inconstant. Neonatal hypoglycemia, cryptorchidism, micropenis and short stature are the main clinical signs of hypopituitarism. One patient was found to have an hypothalamic hamartomatous tumor and dysmorphic signs suggestive of Pallister-Hall syndrome. All other patients had minor dysmorphic features and a family history of isolated postaxial polydactyly with an autosomal dominant inheritance. Biological studies confirm growth hormone (GH) deficiency (constant), frequently associated with thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), luteinizing hormone (LH) and follicle stimulating hormone (FSH) deficiencies. Brain computerized tomography (CT) scan inconstantly shows hypoplastic anterior pituitary.

Expert reviewer(s)

  • Dr Caroline SEVIN

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