Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive...

BACKGROUND X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions. OBJECTIVE To investigate the presence of mutations in the DDP1 gene in a family with dysto...

Hypoparathyroidism, deafness and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease which is first defined by Barakat in 1977 (1). It is characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia, inherited dominantly and found to be related with GATA3 gene mutations. This gene is located on 10 p 15 and is essential in embryonic development of the parathyroid gla...

Non-luetic interstitial keratitis, deafness and vertigo characterize Cogan's syndrome. The most common ocular findings in early Cogan's syndrome are bilateral, peripheral, subepithelial numular corneal opacities. The report presents a patient with the evolution of the classic form of Cogan's syndrome.

Key words Name of the disease and its synonyms Diagnostic criteria/definition Differential diagnosis Incidence Clinical description Evolution/prognosis Anatomical pathology Nosology Management/treatment Etiology/pathogenesis Complementary examinations/biological diagnosis Unresolved questions Reference Abstract Typical Cogan's syndrome is defined by non-syphilitic interstitial keratitis associa...

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with al...

Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS). Cx26-G45E is a lethal mutation linked to KIDS that forms constitutively active connexin hemichannels. The path...

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man fro...

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote ...