Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H01928 Smith-Kingsmore syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H01928 Smith-Kingsmore syndrome
Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares M, Del Pozo A, Ibanez K, Silla JC, Barroso E, Ruiz Perez VL, Martinez-Glez V, Lapunzina P
Title
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Focal cortical dysplasia of Taylor; Focal cortical dysplasia type II
Description
Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H01251 Focal cortical dysplasia of Taylor
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H01251 Focal cortical dysplasia of Taylor
Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
Title
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
