Apert Syndrome : A genetic disorder

Apert Syndrome


Introduction

Apert syndrome is a rare genetic disorder that is characterized by specific craniofacial and limb abnormalities. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. The mutation can be inherited from a parent who has Apert syndrome or it can be a spontaneous (new) mutation. Studies show that Apert syndrome tends to occur more often in children with older fathers. Furthermore, all new mutations (those that have not been inherited by an affected parent) have been shown to occur exclusively in the FGFR2 gene received by the father. Apert syndrome occurs in 1 out of 100,000 to 160,000 live births and affects males and females equally. The first reported case of the syndrome was in 1848 by S.W. Wheaton, and in 1906, a French physician named E. Apert described nine cases and defined the syndrome.

Features and Characteristics

The following characteristics have been found in children with Apert syndrome:

• Prematurely fused cranial sutures
• Retruded (or sunken) mid-face
• Fused fingers
• Fused toes
• Brachycephaly (short wide head)
• Acrocephaly (high prominent forehead)
• Flattened back of skull
• Prominent eyes - may be spaced widely apart or slant downward
• Strabismus
• Prominent mandible
• Depressed nasal bridge and small anteverted nose
• Down-turned corners of the mouth
• Low set ears (as well as hearing loss)
• Cleft palate
• Severe acne in teens
• Hydrocephalus
• Dental abnormalities (malposition of the teeth, crowding of the teeth, delayed tooth eruption, high-arched narrow palate, thickened ridges that support the teeth)
• Internal organ abnormalities including heart defects and abnormalities of the trachea,
  
• uterus, and brain

Skin manifestations of Apert syndrome

Hyperhidrosis Synonychia Brittle nails Severe acne in puberty Interruption of the eyebrows Hypopigmentation Hyperkeratosis Paronychial infections of plantar skin Excessive skin wrinkling of forehead Dimples at knuckles, shoulders and elbows

Prematurely Fused Cranial Sutures

Retruded Mid-face

Fused Fingers and Toes

Diagnosis

The diagnosis can be made by a skull x-ray, which will confirm premature closure of the skull, and by a clinical exam. The combination of the craniofacial problems and the fused fingers and toes is what distinguishes Apert syndrome from other similar syndromes. Since the defect which causes Apert syndrome has been identified, genetic testing can be provided to confirm a diagnosis.

Treatment

Treating a child with Apert syndrome is best accomplished with a team approach. This would include a craniofacial surgeon, neurosurgeon, ENT specialist, audiologist, speech pathologist, oral surgeon, psychologist, ophthalmologist, and an orthodontist. The majority of treatment methods is surgical and the individual will likely require many operations. Aside from the surgeries required to correct the craniofacial problems and the fused fingers and toes, there may be other potential surgeries to improve the upper airway, address severe eye problems, or correct dental issues.

A child with Cushing syndrome

Allergic Rhitinitis: A seasonal problem

Allergic Rhinitis -2 types: seasonal and Perennial

Seasonal Allergic Rhinitis

Seasonal allergic rhinitis is the medical term for congestion and runny nose caused by exposure to plant allergens, commonly known as hay fever. For most people, spring through fall are the worst seasons for allergies, but symptoms can occur throughout the year.

Causes

1. Pollen Seasonal allergic rhinitis is considered an atopic disease, meaning that it is caused by a genetic predisposition to hypersensitivity to certain substances. In this case, the reaction is to wind-borne pollens. The allergens change with the seasons: tree pollens in spring, grass and weed pollens in summer, and weed pollens in fall. Fungal spores can also cause symptoms. Sufferers may experience hypersensitivity during one or all of these seasons, and will often experience different symptoms in different geographic locations.

Symptoms

1. 
   Swollen eyelid due to allergies
   Seasonal allergic rhinitis is marked by congestion of the nasal mucosa on exposure to the allergen. Itching is also common, especially in the nose, roof of the mouth, throat and eyes. This is often followed by sneezing, tears and clear nasal discharge. The conjunctiva of the eyes may turn red and the eyelids may swell. The nasal lining will appear red and swollen. Some patients will experience headaches, loss of appetite and mood changes. Coughing and wheezing may also occur.

Treatment

2. The best treatment for seasonal allergic rhinitis is to avoid the allergens. However, this is often not possible. Many over-the-counter and prescription drugs are used to treat the symptoms, including antihistamines, eye drops, nasal steroid sprays and in severe cases, systemic steroids.

Natural Remedies

3. Natural remedies for seasonal allergic rhinitis abound. Neti pots, or other forms of nasal lavage, can provide relief from congestion and itchiness of the nose. Herbs used for allergies include eyebright, nettles, yarrow, and Oregon grape root. Some of the many homeopathic remedies include euphrasia, allium, apis and urtica. Acupuncture can also provide relief from allergic symptoms.

Practical Solutions

4. Many allergy sufferers will find relief from making changes in their day-to-day lifestyle. Air purifiers and dust filters can make inside air easier to breathe. The filters on furnaces and air-conditioning units should be changed every 1 to 3 months. Filters come in several grades, and the higher grades--though much more expensive--reduce airborne allergens and improve the quality of indoor air. Carpets, bedspreads and drapes collect dust and allergens, and should be cleaned frequently and carefully. Hardwood floors are a better choice than carpeting for many allergy sufferers.

Cautions

5. Consult a naturopathic doctor, qualified herbal practitioner, homeopath or acupuncturist for further information on the use of natural remedies for allergy relief. If allergy symptoms are accompanied by fever, lethargy, severe headache, productive cough or unusual discharge from the nose or eyes, contact a physician or qualified practitioner immediately.