Explore a comprehensive guide to Aarskog Syndrome with Meri Sehat. Gain insights and support for managing this rare genetic condition.

Aarskog Syndrome

A. JABBAR DENTAL CLINIC KARACHI

Sadia Khan

Overview

Aarskog syndrome, also known as Aarskog-Scott syndrome or faciogenital dysplasia, is a rare genetic disorder that primarily affects the development of the face, limbs, and genitalia. 
&nbsp;

The global prevalence and incidence statistics for Aarskog syndrome are not well-documented. However, it is considered a rare disease, affecting 1 in 25,000 live births or less than that.<a href="#accordion">[2]</a>

Due to the rarity of Aarskog syndrome, there may be limited awareness and understanding of the condition among healthcare professionals and the general population. This can result in a delayed or misdiagnosed diagnosis and limited access to appropriate medical care and support services. 
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Sign and Symptoms

The characteristic symptoms and signs associated with Aarskog syndrome may include:<a href="#accordion">[1][2][3]</a>

<ul>
	<li>Facial Features: A broad forehead, drooping eyelids (ptosis)&nbsp;widely-spaced eyes(ocular hypertelorism) a broad nasal bridge, and a small nose</li>
	<li>Limbs: Short fingers (brachydactyly),flat feet with broad or rounded toes, and a bent fifth finger (clinodactyly)</li>
	<li>Genitalia: An abnormally positioned urethral opening (hypospadias) and undescended testes (cryptorchidism) in males</li>
	<li>Growth: Stunted growth and short stature</li>
	<li>Other: Joint hypermobility and speech delay 
	&nbsp;</li>
</ul>

Causes

Mutations in the FGD1 gene located on the X chromosome are the primary cause of Aarskog syndrome. This gene encodes a protein involved in the regulation of cell signaling and tissue development.

As it is an X-linked disorder, it predominantly affects males. Females can be carriers and exhibit milder symptoms due to the presence of a second X chromosome.

However, only 20% of individuals with Aarskog syndrome present with identifiable variants of the FGD1 gene. The rest of them have no known cause.<a href="#accordion">[1]</a>

Diagnosis

Currently, there are no standard population-wide screening methods for Aarskog syndrome. 

The diagnosis of Aarskog syndrome involves a comprehensive assessment of clinical features, medical history, and genetic testing. Doctors may order additional tests, like X-rays, to identify abnormal features.

In some families, the condition is passed on in an autosomal recessive or autosomal dominant pattern. So, genetic testing can be performed for families with a history of the disorder or when a diagnosis is suspected based on clinical features. 
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Treatment

Treatment for Aarskog syndrome is primarily supportive and aims to address specific symptoms.

<ul>
	<li>Orthopedic Interventions: Surgical procedures may be considered for hand and finger abnormalities.</li>
	<li>Speech Therapy: Therapy can help overcome speech delays and communication difficulties.</li>
	<li>Genitalia Repair: Hypospadias and cryptorchidism in males can be surgically corrected.</li>
	<li>Growth Hormone Therapy: External hormone therapy may facilitate growth.</li>
	<li>Psychosocial Support: Counseling and support are essential for individuals and their families dealing with the challenges of the disorder.<a href="#accordion">[2]</a> 
	&nbsp;</li>
</ul>

The syndrome has a profound effect on the affected individuals and their families.

<ul>
	<li>Delayed speech and motor skills</li>
	<li><a href="https://merisehat.pk/article/the-power-of-self-esteem-strategies-for-building-confidence-in-teens-by-rukhsana-rizwan">Self-esteem</a> and psychological challenges</li>
	<li>Dexterity and function issues</li>
	<li>Reproductive health problems (males)</li>
	<li><a href="https://merisehat.pk/disease/seizures">Seizures</a> 
	&nbsp;</li>
</ul>

Risk factors for Aarskog Syndrome include:

<ul>
	<li>Genetic Mutation: A family history of the disorder or a known FGD1 gene mutation increases the risk.</li>
	<li>Gender: Males are more commonly affected due to the X-linked inheritance pattern.<a href="#accordion">[3]</a> 
	&nbsp;</li>
</ul>

There are no specific preventive measures. 
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Key Points

<ul>
	<li>Aarskog Syndrome is a rare genetic disorder that affects facial, limb, and genital development.</li>
	<li>It is caused by mutations in the FGD1 gene on the X chromosome.</li>
	<li>Diagnosis involves clinical assessment and genetic testing.</li>
	<li>Treatment addresses symptoms and complications through various surgical and therapeutic interventions.</li>
	<li>Complications include developmental delays, psychological impact, and orthopedic issues.</li>
</ul>