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Naguib-Richieri-Costa syndrome

Last updated April 26, 2018

Approved by: Maulik P. Purohit MD, MPH

Naguib-Richieri-Costa Syndrome (or Hypertelorism-Hypospadias-Polysyndactyly Syndrome) is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

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

  • Acrofrontofacionasal (AFFN) Dysostosis Type 2
  • Hypertelorism-Hypospadias-Polysyndactyly Syndrome
  • Naguib Syndrome

What is Naguib-Richieri-Costa Syndrome? (Definition/Background Information)

  • Naguib-Richieri-Costa Syndrome (or Hypertelorism-Hypospadias-Polysyndactyly Syndrome) is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies
  • Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears
  • Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit
  • The condition seems to be hereditary, and transmitted as an autosomal recessive trait. It has been described in three families

(Source: Hypertelorism-hypospadias-polysyndactyly syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Naguib-Richieri-Costa Syndrome? (Age and Sex Distribution)

  • Naguib-Richieri-Costa Syndrome is a rare congenital disorder that is reported in a few families. 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 Naguib-Richieri-Costa Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Naguib-Richieri-Costa 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 Naguib-Richieri-Costa Syndrome? (Etiology)

  • Naguib-Richieri-Costa Syndrome is reportedly a genetic disorder that is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Naguib-Richieri-Costa Syndrome?

The signs and symptoms of Naguib-Richieri-Costa Syndrome may include the following:

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

  • Brachycephaly
  • Delayed cranial suture closure
  • Depressed nasal ridge
  • Epispadias
  • Finger syndactyly
  • Flat occiput
  • Hypertelorism
  • Hypospadias
  • Large fontanelles
  • Low-set ears
  • Posteriorly rotated ears
  • Shawl scrotum
  • Wide nasal bridge

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

  • Bifid scrotum
  • Broad forehead
  • Broad hallux phalanx
  • Broad thumb
  • Cleft eyelid
  • Downslanted palpebral fissures
  • Glaucoma
  • Long philtrum
  • Proptosis
  • Ptosis

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

  • Abnormal toenail morphology
  • Encephalocele
  • Exencephaly
  • Lissencephaly
  • Macrogyria
  • Pachygyria
  • Polymicrogyria
  • Sacral dimple

Some other signs and symptoms of Naguib-Richieri-Costa Syndrome include:

  • Broad hallux
  • Hand polydactyly
  • High palate
  • Microcephaly
  • Overfolded helix
  • Redundant neck skin
  • Syndactyly
  • Thickened nuchal skin fold
  • Wide anterior fontanel
  • Wide nose
  • Widow's peak

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

How is Naguib-Richieri-Costa Syndrome Diagnosed?

Naguib-Richieri-Costa 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 Naguib-Richieri-Costa Syndrome?

The complications of Naguib-Richieri-Costa Syndrome may include:

  • Physical deformities
  • Infertility
  • Decrease in quality of life

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

How is Naguib-Richieri-Costa Syndrome Treated?

There is no cure for Naguib-Richieri-Costa Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Naguib-Richieri-Costa Syndrome be Prevented?

Currently, Naguib-Richieri-Costa Syndrome 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 Naguib-Richieri-Costa Syndrome? (Outcomes/Resolutions)

  • The prognosis of Naguib-Richieri-Costa 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 Naguib-Richieri-Costa Syndrome:

Naguib-Richieri-Costa Syndrome is also known by the following names:

  • AFFN Dysostosis 2
  • Severe Acrofrontofacionasal Dysostosis

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


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 26, 2018
Last updated: April 26, 2018