High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals w...

Full description

Saved in:
Bibliographic Details
Published in:Orphanet journal of rare diseases 2021-10, Vol.16 (1), p.1-458, Article 458
Main Authors: Pablo, M. J, Pamplona, P, Haddad, M, Benavente, I, Latorre-Pellicer, A, Arnedo, M, Trujillano, L, Bueno-Lozano, G, Kerr, L. M, Huisman, S. A, Kaiser, F. J, Ramos, F, Kline, A. D, Pie, J, Puisac, B
Format: Article
Language:English
Subjects:
Aging
Asymmetry
Autonomic nervous system
Autonomic neuropathies
Autonomic neuropathy
CdLS
Complications and side effects
Cornelia de Lange Syndrome
De Lange syndrome
Decades
Exocrine glands
Gastroesophageal reflux
Gene regulation
Heart rate
Medical research
Mutation
Nerve conduction
Nervous system
Peripheral neuropathy
Rare diseases
Risk factors
Sensory neurons
Silicones
Skin tests
Small fiber nerve
Somatic nervous system
Statistics
Sudomotor test
Sympathetic nervous system
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-021-02082-y