Acrofacial Dysostosis, Rodriguez type

Acrofacial Dysostosis, Rodriguez type

Article
Brain & Nerve
Bone, Muscle, & Joint
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Contributed byMaulik P. Purohit MD MPHApr 20, 2018

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

  • AFD, Rodriguez type
  • Rodriguez Lethal Acrofacial Dysostosis Syndrome
  • Rodriguez type of Acrofacial Dysostosis

What is Acrofacial Dysostosis, Rodriguez type? (Definition/Background Information)

  • Acrofacial Dysostosis, Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs
    • The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress
    • Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs)
    • Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus
    • These infants also show facial dysmorphism and ear anomalies
  • The condition is a rare with an autosomal recessive mode of inheritance
  • The prognosis is poor and this condition leads to death in utero or shortly after birth

(Source: Acrofacial Dysostosis, Rodriguez Type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Acrofacial Dysostosis, Rodriguez type? (Age and Sex Distribution)

  • Acrofacial Dysostosis, Rodriguez Type 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 Acrofacial Dysostosis, Rodriguez type? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Acrofacial Dysostosis, Rodriguez Type can be inherited
  • Currently, no other risk factors have been clearly identified for this disorder

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 Acrofacial Dysostosis, Rodriguez type? (Etiology)

  • The exact cause of development of Acrofacial Dysostosis, Rodriguez type is currently unknown
  • It is reportedly a genetic disorder that is inherited in an autosomal recessive manner

What are the Signs and Symptoms of Acrofacial Dysostosis, Rodriguez type?

The signs and symptoms of Acrofacial Dysostosis, Rodriguez type may include:

  • 11 pairs of ribs
  • Absent forearm
  • Deeply set eye
  • Deep-set nails
  • Hypertelorism
  • Low-set ears
  • Micrognathia
  • Narrow mouth
  • Oligodactyly
  • Overlapping toe
  • Posteriorly rotated ears
  • Prominent nose
  • Short philtrum
  • Short tibia
  • Single transverse palmar crease
  • Thin skin
  • Triphalangeal thumb
  • Wide anterior fontanel
  • Wide nasal bridge

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

  • Hand oligodactyly
  • Malar flattening
  • Microretrognathia
  • Microtia
  • Prominent nasal bridge

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

  • Abnormality of cardiovascular system morphology
  • Abnormality of pelvic girdle bone morphology
  • Aplasia/hypoplasia of the radius
  • Fibular hypoplasia
  • Aplasia/hypoplasia of the ulna
  • Aqueductal stenosis
  • Arrhinencephaly
  • Radioulnar synostosis
  • Sprengel anomaly

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

  • Abnormal form of the vertebral bodies
  • Abnormality of the uterus
  • Finger syndactyly
  • Intrauterine growth retardation
  • Renal hypoplasia/aplasia
  • Talipes equinovarus

(Source: Acrofacial Dysostosis, Rodriguez type; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Acrofacial Dysostosis, Rodriguez type Diagnosed?

Acrofacial Dysostosis, Rodriguez type 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 Acrofacial Dysostosis, Rodriguez type?

The complications of Acrofacial Dysostosis, Rodriguez type may include:

  • Severe growth abnormalities at birth
  • Malformation of the heart, lungs, and brain
  • Death during infancy (or at birth)

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

How is Acrofacial Dysostosis, Rodriguez type Treated?

There is no cure for Acrofacial Dysostosis, Rodriguez type, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Acrofacial Dysostosis, Rodriguez type be Prevented?

Currently, Acrofacial Dysostosis, Rodriguez type may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • 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 Acrofacial Dysostosis, Rodriguez type? (Outcomes/Resolutions)

  • The prognosis of Acrofacial Dysostosis, Rodriguez Type is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Typically, the prognosis is reported to be poor, and most babies are known to die in the womb or shortly after birth

Additional and Relevant Useful Information for Acrofacial Dysostosis, Rodriguez type:

  • Acrofacial Dysostosis, Rodriguez type is also known by the following names: Rodriguez form of AFD

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

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

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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