Naguib-Richieri-Costa syndrome

Other Names: Hypertelorism hypospadias polysyndactyly syndrome; Acrofrontofacionasal dysostosis, severe; AFFN dysostosis 2; Naguib syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

Epidemiology

It has been described in three families.

Cause

The cause is not yet known.

Inheritance

Autosomal recessive inheritance, a 25% chance

Inheritance is autosomal recessive .

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Brachycephaly(Short and broad skull)
• Delayed cranial suture closure
• Depressed nasal ridge(Flat nose)
• Epispadias
• Finger syndactyly
• Flat occiput
• Hypertelorism(Wide-set eyes)
• Hypospadias
• Large fontanelles(Wide fontanelles)
• Low-set ears(Low set ears)
• Posteriorly rotated ears(Ears rotated toward back of head)
• Preaxial hand polydactyly(Extra thumb)
• Shawl scrotum(Scrotum surrounds penis)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Bifid scrotum(Cleft of scrotum)
• Broad forehead(Increased width of the forehead)
• Broad hallux phalanx(Broad bone of big toe)
• Broad thumb(Broad thumbs)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Eyelid coloboma(Cleft eyelid)
• Glaucoma
• Long philtrum
• Proptosis(Bulging eye)
• Ptosis(Drooping upper eyelid)

5%-29% of people have these symptoms

• Abnormal toenail morphology(Abnormality of the toenail)
• Encephalocele
• Exencephaly
• Macrogyria
• Pachygyria(Fewer and broader ridges in brain)
• Polymicrogyria(More grooves in brain)
• Sacral dimple(Spinal dimple)

NIH genetic and rare disease info

• NIH info on Naguib-Richieri-Costa syndrome

Naguib-Richieri-Costa syndrome is a rare disease.

Naguib-Richieri-Costa syndrome Resources
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