Rare Diseases Symptoms Automatic Extraction

Discovery of a large deletion of KAL1 in 2 deaf brothers.

[kallmann syndrome]

Kallmann syndrome (KS) usually combines an anosmia and a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family.Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements.Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicism identified in their mother.The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients.

Diseases presenting "sensorineural hearing impairment" symptom

  • kallmann syndrome
  • neonatal adrenoleukodystrophy
  • oligodontia
  • pendred syndrome

This symptom has already been validated