What are the other Names for this Condition? (Also known as/Synonyms)

• Al Gazali Hirschsprung Syndrome
• Hirschsprung Disease-Nail Hypoplasia-Dysmorphism
• Hirschsprung's Disease, Hypoplastic Nails, and Minor Dysmorphic Features

What is Al-Gazali-Donnai-Mueller Syndrome? (Definition/Background Information)

• Al-Gazali-Donnai-Mueller Syndrome, or Hirschsprung Disease-Nail Hypoplasia-Dysmorphism, is a fatal malformative disorder
• It is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported
• There have been no further descriptions of Al-Gazali-Donnai-Mueller Syndrome in the literature since 1988

(Source: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Al-Gazali-Donnai-Mueller Syndrome? (Age and Sex Distribution)

• Al-Gazali-Donnai-Mueller Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Al-Gazali-Donnai-Mueller Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Al-Gazali-Donnai-Mueller Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Al-Gazali-Donnai-Mueller Syndrome? (Etiology)

The exact cause of development of Al-Gazali-Donnai-Mueller Syndrome is presently unknown.

What are the Signs and Symptoms of Al-Gazali-Donnai-Mueller Syndrome?

The signs and symptoms of Al-Gazali-Donnai-Mueller Syndrome may include:

• Abnormal facial shape including flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices
• Aganglionic megacolon
• Anal atresia
• Hydronephrosis
• Inguinal hernia
• Small nail, hypoplastic nails
• Distal limb hypoplasia

(Source: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Al-Gazali-Donnai-Mueller Syndrome Diagnosed?

Al-Gazali-Donnai-Mueller Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Al-Gazali-Donnai-Mueller Syndrome?

The complications of Al-Gazali-Donnai-Mueller Syndrome may include:

• Severe multiple abnormalities
• Renal dysfunction

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Al-Gazali-Donnai-Mueller Syndrome Treated?

Presently, there is no cure for Al-Gazali-Donnai-Mueller Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Al-Gazali-Donnai-Mueller Syndrome be Prevented?

• Currently, Al-Gazali-Donnai-Mueller Syndrome may not be preventable, since the cause of this disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Al-Gazali-Donnai-Mueller Syndrome? (Outcomes/Resolutions)

• The prognosis of Al-Gazali-Donnai-Mueller Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Although, typically, the prognosis of the disorder is poor

Additional and Relevant Useful Information for Al-Gazali-Donnai-Mueller Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/