Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing of the TCF4 transcription factor gene, which is contained in the deletion region, in 30 patients...

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of hyperventilation. We report on a female patient with PHS showing severe mental retardation with absent speech, pronounced muscular hypotonia, ataxia, distinctive facial feature...

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of autosomal recessive multisystemic conditions causing severe central nervous system and multivisceral disorders resulting from impairment of the glycosylation pathway. Two disease causing mechanisms have been identified so far. CDG I is caused by a defect in the assembly of the dolicholpyrophosphate oligosaccharide p...

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...