Developmental coordination disorder (DCD) is a developmental disorder characterized by
impaired motor coordination, often co-occurring with attention deficit disorder, autism …

Nance-Horan syndrome (NHS)[OMIM 302350] is a rare, X-linked, dominantly inherited
developmental disorder that was first reported in 1974 by two independent studies in …

Abstract Nance Horan Syndrome (NHS) is a rare congenital genetic condition. However,
due to the sporadicity of cases and the similarity in manifestations of mild NHS with X-linked …

Alström syndrome (AS) is a rare multisystem disorder characterized by cone-rod retinal
dystrophy leading to vision loss, hearing deficiency, obesity, type 2 diabetes mellitus, and …

Joubert syndrome (JS) is a rare inherited disorder of central nervous system with
neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically …

“Ciliopathies” are a group of genetic disorders described by the malformation or dysfunction
of cilia. The disorders of ciliary proteins lead to a range of phenotype from organ-specific …

Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation
of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the …

Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this
syndrome presented a characteristic picture of cranial fossa malformations, called “molar …

Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being
reported only in 3% of cases. Few patients have been described, moreover, with poor …

The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of
the multiplicity of problems and calls for close collaboration between different specialists …