Frontonasal dysostosis, retarded growth, and mental
development. Brachycephaly, broad notched nasal tip, cleft lip/palate, and
macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal
phalanges of the hands. Iliac hypoplasia, short legs, and hypospadias.
Type I: Postaxial Polysyndactyly, Frontonasal Dysostosis, and Cleft
Lip/Palate; Cleft Lip/Palate with Frontonasal Dysostosis and Postaxial
Type II: Naguib-Richieri-Costa Syndrome; Richieri-Costa-Montagnoli Syndrome;
Hypertelorism, Hypospadias, and Polysyndactyly Syndrome.
The term dysostosis refers to a defect in the ossification process,
which results in malformations of individual bones arising either isolated
or multiple. Some patients also exhibit axial involution. The dysostosis
predominantly involves the extremities. The most common forms are syndactyly
or polydactyly, which may occur in combination with craniofacial or other
abnormalities. Two types of this syndrome, each including only a small
number of patients, have been described.
Extremely rare congenital abnormality described in fewer
than 10 patients of both sexes.
An autosomal recessive trait has been
suggested, although insufficient genetic background information or
molecular data are available. However, normal chromosomes, parental
consanguinity, and familial occurrence suggest an autosomal recessive
inheritance is possible.
At birth, the diagnosis is
suspected based on the clinical aspect characterized by facial and other
anomalies: hypertelorism, eye anomalies, broad notched nasal tip, cleft
lip/palate, camptodactyly, brachydactyly, and polysyndactyly of fingers and
toes, anomalies of the feet, and hypospadias. Severe mental retardation is
- Acrofrontofacionasal dysostosis I: Mental retardation, short stature,
hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate,
postaxial camptobrachypolysyndactyly affecting fingers and toes, fibular
hypoplasia, and anomalies of the foot structure are the most common
Acrofrontofacionasal dysostosis II: Hypertelorism, proptosis, ptosis, wide
forehead, microbrachycephaly, broad nose with midline groove, hypospadias,
syndactyly of the fingers, and broad thumbs and halluces.
Obtain a thorough and careful
examination for associated abnormalities of the heart (echocardiography) and
kidneys (blood work, ultrasound). The patient's mental and neurologic status
must be assessed to determine a thoughtful approach to premedication and
induction. Evaluate for difficult airway and venous access.
There are no published data concerning anesthetic or pharmacological implications
in this syndrome. Use of regional anesthesia and analgesia provides a
reasonable alternative whenever applicable in these children. Proptosis
makes the eyes vulnerable to injuries, so good protection and lubrification
intraoperatively are recommended.
Richieri-Costa A, Colletto G, Gollop TR, et al: A previously undescribed
autosomal recessive multiple congenital anomalies/mental retardation
(MCA/MR) syndrome with frontonasal dysostosis, cleft lip/palate, limb
hypoplasia and postaxial polysyndactyly; acro-fronto-facio-nasal dysostosis
syndrome. Am J Genet
Naguib KK: Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and
normal height in 3 sibs: A new syndrome? Am J Med Genet
Teebi AS: Naguib-Richieri-Costa syndrome: Hypertelorism, hypospadias, and
polysyndactyly syndrome [letter]. Am J Med Genet