Neonatal progeroid syndrome

Common Name(s)

Neonatal progeroid syndrome

Neonatal progeroid syndrome is a premature aging syndrome in which features of human aging are apparent at birth, including larger than nomal sized head; prominent scalp veins; triangular, aged face; wrinkled skin; and decreased fat under the skin.  This differentiates this syndrome from other premature aging syndromes such as HutchinsonÐGilford progeria syndrome (HGPS) (more commonly called progeria) in which characteristics of premature aging typically become apparent some time after birth. Although the exact cause of neonatal progeroid syndrome is unknown, it is believed to be genetic and inherited in an autosomal recessive fashion. Treatment is based on the individual's specific symptoms.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neonatal progeroid syndrome" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neonatal progeroid syndrome" for support, advocacy or research.

Logo
Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neonatal progeroid syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
 

Author(s): Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman

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A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift ...

Last Updated: 16 Jul 2015

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Natural course of neonatal progeroid syndrome.
 

Author(s): Jia-Woei Hou

Journal: Pediatr Neonatol. 2009 Jun;50(3):102-9.

 

Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of ...

Last Updated: 7 Jul 2009

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A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
 

Author(s): M B Delatycki, M A Cleary, A Bankier, P N McDougall, J S Ahluwalia, C W Chow, C M Cooke-Yarborough

Journal: J. Med. Genet.. 1997 Jun;34(6):520-4.

 

Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and ...

Last Updated: 22 Aug 1997

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neonatal progeroid syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
 

Status: Recruiting

Condition Summary: Cockayne Syndrome; Skin Cancer; Xeroderma Pigmentosum; Trichothiodystrophy; Genodermatosis

 

Last Updated: 18 Oct 2017

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