GAPO syndrome

WikiDoc Resources for GAPO syndrome
Articles
Most recent articles on GAPO syndrome Most cited articles on GAPO syndrome Review articles on GAPO syndrome Articles on GAPO syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on GAPO syndrome Images of GAPO syndrome Photos of GAPO syndrome Podcasts & MP3s on GAPO syndrome Videos on GAPO syndrome
Evidence Based Medicine
Cochrane Collaboration on GAPO syndrome Bandolier on GAPO syndrome TRIP on GAPO syndrome
Clinical Trials
Ongoing Trials on GAPO syndrome at Clinical Trials.gov Trial results on GAPO syndrome Clinical Trials on GAPO syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on GAPO syndrome NICE Guidance on GAPO syndrome NHS PRODIGY Guidance FDA on GAPO syndrome CDC on GAPO syndrome
Books
Books on GAPO syndrome
News
GAPO syndrome in the news Be alerted to news on GAPO syndrome News trends on GAPO syndrome
Commentary
Blogs on GAPO syndrome
Definitions
Definitions of GAPO syndrome
Patient Resources / Community
Patient resources on GAPO syndrome Discussion groups on GAPO syndrome Patient Handouts on GAPO syndrome Directions to Hospitals Treating GAPO syndrome Risk calculators and risk factors for GAPO syndrome
Healthcare Provider Resources
Symptoms of GAPO syndrome Causes & Risk Factors for GAPO syndrome Diagnostic studies for GAPO syndrome Treatment of GAPO syndrome
Continuing Medical Education (CME)
CME Programs on GAPO syndrome
International
GAPO syndrome en Espanol GAPO syndrome en Francais
Business
GAPO syndrome in the Marketplace Patents on GAPO syndrome
Experimental / Informatics
List of terms related to GAPO syndrome

GAPO syndrome is a rare genetic disorder. GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy.

For patient information, click

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Muhammad Waleed, M.B.B.S. [1]

Synonyms and keywords:

Overview

GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis."GAPO syndrome | About the Disease | GARD".

Historical Perspective

GAPO syndrome was first described in 1947. Since then, fewer than 60 cases have been reported in the medical literature up to the year 2021."GAPO syndrome | About the Disease | GARD".

Classification

GAPO syndrome is caused by homozygous nonsense or splicing mutations in the ANTXR1 gene located on chromosome 2p13.3. This gene encodes anthrax toxin receptor 1, also known as tumor endothelial marker 8 (TEM8). The inheritance pattern is autosomal recessive, and genetic counseling is recommended for at-risk couples to inform them that each pregnancy carries a 25% risk of having an affected child"GAPO syndrome | About the Disease | GARD".

Pathophysiology

GAPO syndrome is a genetic disorder resulting from mutations in the ANTXR1 gene, leading to dysfunctional anthrax toxin receptor 1. Symptoms may begin to appear in infancy or early childhood."GAPO syndrome | About the Disease | GARD".

Cause

GAPO syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.Disease-causing variants, or differences, in the following gene(s) are known to cause this disease: ANTXR1"GAPO syndrome | About the Disease | GARD".

Clinical features

• Growth Retardation: Individuals with GAPO syndrome exhibit slow skeletal formation, resulting in below-average height.
• Alopecia (Hair Loss): Hair is typically thinly dispersed and fragile, often leading to baldness later in life.
• Pseudoanodontia: Tooth growth is stunted, with teeth failing to emerge from the gums or develop normally.
• Progressive Optic Atrophy: Approximately one-third of individuals experience optic nerve atrophy, leading to peripheral vision impairment and difficulty distinguishing colors.
• Facial Features: While not defining, most individuals with GAPO syndrome have coarse facial features, including a large forehead, depressed nose bridges, protruding ears, and thick lips.
• Mental Function: There is no direct correlation between GAPO syndrome and mental retardation, although some cases of co-occurrence have been reported."GAPO syndrome | About the Disease | GARD".

Epidemiology and Demographics

Approximately 60 patients with GAPO syndrome have been reported in literature since the first description in 1947."GAPO syndrome | About the Disease | GARD".

Risk Factors

There are no specific risk factors associated with the development of GAPO syndrome."GAPO syndrome | About the Disease | GARD".

Screening

There are no established screening programs for GAPO syndrome."GAPO syndrome | About the Disease | GARD".

Natural History, Complications and Prognosis

GAPO syndrome has no curative treatment. Management primarily involves ophthalmologic surveillance and addressing symptomatic health problems. Individuals with GAPO syndrome generally have a reduced lifespan, typically living until the fourth to sixth decade of life."GAPO syndrome | About the Disease | GARD".

Diagnosis

Diagnosis mostly relies on physical and ophtamologic examination. Additionally skin biopsy, cerebral angiography and magnetic resonance imaging contribute to more specific diagnosis.Prenatal diagnosis is not possible from fetal ultrasound (US). In utero growth retardation may be observed on US but is not specific.

Treatment

There is no curative treatment. Management mostly relies on ophthalmologic surveillance and symptomatic treatment of the multiple health problems.GAPO patients are reported to have a reduced lifespan (until the fourth to sixth decade of life"GAPO syndrome | About the Disease | GARD".

References

"GAPO syndrome | About the Disease | GARD".

External links

• Online Mendelian Inheritance in Man (OMIM) 230740

Template:WikiDoc Sources Template:Jb1