Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

external link
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.

external link
3.

OMIM.ORG article

Omim 617044 external link
Update: Aug. 14, 2020
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