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Acro-Renal-Mandibular Syndrome

Last updated April 17, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Acro-Renal-Mandibular Syndrome is a very rare multiple congenital anomalies syndrome. It is characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.


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

  • Acrorenal Mandibular Syndrome
  • Acro-Renal-Uterine-Mandibular Syndrome
  • Split Hand Split Foot Mandibular Hypoplasia

What is Acro-Renal-Mandibular Syndrome? (Definition/Background Information)

  • Acro-Renal-Mandibular Syndrome is a very rare multiple congenital anomalies syndrome
  • It is characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia
  • An autosomal recessive mode of inheritance has been suggested

(Source: Acro-Renal-Mandibular Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Acro-Renal-Mandibular Syndrome? (Age and Sex Distribution)

  • Acro-Renal-Mandibular 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 Acro-Renal-Mandibular Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Acro-Renal-Mandibular Syndrome can be inherited
  • Currently, no other risk factors have been clearly identified for the 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 Acro-Renal-Mandibular Syndrome? (Etiology)

  • The exact cause of Acro-Renal-Mandibular Syndrome is presently unknown
  • It is reportedly an autosomal recessive (genetic) disorder

What are the Signs and Symptoms of Acro-Renal-Mandibular Syndrome?

The signs and symptoms of Acro-Renal-Mandibular Syndrome may include:

  • Abnormal sacral segmentation
  • Abnormality of the cardiovascular system
  • Abnormality of the ureter
  • Absent nipple
  • Aplasia of the bladder
  • Elbow flexion contracture
  • Epicanthus
  • Foot polydactyly
  • Hand polydactyly
  • Kyphoscoliosis
  • Low-set ears
  • Missing ribs
  • Narrow chest
  • Narrow palate
  • Polycystic kidney dysplasia
  • Posteriorly rotated ears
  • Renal agenesis
  • Scaphocephaly
  • Toe syndactyly

Very frequently present symptoms in 80-99% of the cases:

  • Hypoplasia of the radius
  • Hypoplasia of the ulna
  • Renal hypoplasia/aplasia
  • Rudimentary fibula
  • Rudimentary to absent tibiae
  • Split foot
  • Split hand

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

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

  • Abnormal lung lobation
  • Aplasia/hypoplasia of the tongue
  • Butterfly vertebrae
  • Congenital diaphragmatic hernia
  • Downslanted palpebral fissures
  • Finger syndactyly
  • Hemivertebrae
  • Hypoplastic scapulae
  • Kyphosis
  • Narrow face
  • Oral cleft
  • Scoliosis
  • Short philtrum
  • Sprengel anomaly
  • Tracheoesophageal fistula

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

How is Acro-Renal-Mandibular Syndrome Diagnosed?

Acro-Renal-Mandibular 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 Acro-Renal-Mandibular Syndrome?

The complications of Acro-Renal-Mandibular Syndrome may include:

  • Renal dysfunction
  • Spinal curvature causing walking difficulties
  • Abnormalities of the digestive tract

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

How is Acro-Renal-Mandibular Syndrome Treated?

There is no cure for Acro-Renal-Mandibular Syndrome, since it may be a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Acro-Renal-Mandibular Syndrome be Prevented?

Currently, Acro-Renal-Mandibular Syndrome may not be preventable, since it is reportedly a genetic disorder.

  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Acro-Renal-Mandibular Syndrome? (Outcomes/Resolutions)

  • The prognosis of Acro-Renal-Mandibular Syndrome 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-Renal-Mandibular Syndrome:

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

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

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 17, 2018
Last updated: April 17, 2018