Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Syndromic growth retardation

The group of growth retardation syndromes includes disease in which dwarfism is associated with other typical symptoms.

Systematic

Short stature
Acrocapitofemoral dysplasia
Brachydactyly
Short stature, SHOX-linked
Sotos syndrome 1
Syndromic growth retardation
Growth retardation with developmental delay and facial dysmorphism
FTO
Short stature, developmental delay, and congenital heart defects
TKT

References:

1.

Boissel S et. al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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2.

Daoud H et. al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

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Update: Sept. 26, 2018