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The incidence and prevalence for this medical condition remains unknown.

Genetic Inheritance

A most likely autosomal recessive inherited disorder that is different from and even rarer than Type I. The propositus was born with microbrachycephaly, wide anterior fontanelle, wide forehead with frontal bossing and a flat occiput. Additional facial features described were profound hypertelorism, bilateral upper eyelid coloboma, down slanting of the palpebral fissures, low-set and dysplastic ears, broad nasal root and tip with a midline groove, and high-arched palate. He had bilateral, proximal cutaneous syndactyly between fingers 3 and 4, broad thumbs (with distal pads), and hallux and distal pads in toes 1-5. The penis was small with hypospadias and a hypoplastic, bifid scrotum. The patients subsequently reported shared many similarities, but also differences and it is unclear if they are indeed suffering from the same disorder. All patients were described as having normal neuropsychological development. The propositus’s sister died on day 15 of life from respiratory distress.

Precautions before anesthesia

Evaluate for difficult airway management. Otherwise do routine preoperative assessment.

Anesthetic considerations

Same as described for Acro-Fronto-Facio-Nasal Dysostosis Syndrome Type I above.

Pharmacological implications

None reported.


Naguib  KK: Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: A new syndrome? Am J Med Genet 29:35–41, 1988.  [PubMed: 2830788]
Richieri-Costa  A, Montagnoli  L, Kamiya  TY: Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. Am J Med Genet 33:121–124, 1989.  [PubMed: 2750779]
Teebi  AS: Naguib-Richieri-Costa syndrome: Hypertelorism, hypospadias, and polysyndactyly syndrome. (Letter) Am J Med Genet 44:115–117, 1992.  [PubMed: 1325738]

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