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

• Brachydactyly, Absent Pectoral Muscles and Agenesis/Hypoplasia of Kidneys

What is Acro-Pectoro-Renal Field Defect? (Definition/Background Information)

• Acro-Pectoro-Renal Field Defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly
• Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles

(Source: Acro-Pectoro-Renal Field Defect; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Acro-Pectoro-Renal Field Defect? (Age and Sex Distribution)

• Acro-Pectoro-Renal Field Defect 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 Acro-Pectoro-Renal Field Defect? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Acro-Pectoro-Renal Field Defect

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 Acro-Pectoro-Renal Field Defect? (Etiology)

The exact cause of development of Acro-Pectoro-Renal Field Defect is presently unknown.

What are the Signs and Symptoms of Acro-Pectoro-Renal Field Defect?

The signs and symptoms of Acro-Pectoro-Renal Field Defect may include:

Very frequently present symptoms in 80-99% of the cases: Aplasia of the pectoralis major muscle

Frequently present symptoms in 30-79% of the cases:

• Aplasia/hypoplasia of the thumb
• Renal hypoplasia

Occasionally present symptoms in 5-29% of the cases:

• Abnormal localization of kidney
• Abnormality of the outer ear
• Aplasia/hypoplasia of the nipples
• Aplasia/hypoplasia of the radius
• Atrial septal defect
• Brachydactyly
• Cryptorchidism
• Diabetes mellitus
• Duplicated collecting system
• Encephalocele
• Finger syndactyly
• Gastroesophageal reflux
• Hand polydactyly
• Hypospadias
• Kyphosis
• Missing ribs
• Myopia
• Pectus carinatum
• Spina bifida occulta
• Split hand
• Sprengel anomaly
• Ureterocele
• Vertebral segmentation defect
• Vesicoureteral reflux

(Source: Acro-Pectoro-Renal Field Defect; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Acro-Pectoro-Renal Field Defect Diagnosed?

Acro-Pectoro-Renal Field Defect 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 Acro-Pectoro-Renal Field Defect?

The complications of Acro-Pectoro-Renal Field Defect may include:

• Severe skeletal abnormalities
• Infertility
• Kidney dysfunction

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

How is Acro-Pectoro-Renal Field Defect Treated?

There is no cure for Acro-Pectoro-Renal Field Defect. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Acro-Pectoro-Renal Field Defect be Prevented?

• Currently, Acro-Pectoro-Renal Field Defect 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 Acro-Pectoro-Renal Field Defect? (Outcomes/Resolutions)

• The prognosis of Acro-Pectoro-Renal Field Defect is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Acro-Pectoro-Renal Field Defect:

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

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