Very rare congenital inherited disorder that combines cataract
and dental anomalies.
Mesiodens-Cataract Syndrome; Cataract-Dental Syndrome;
X-Linked Cataract-Hutchinsonian Theet Syndrome.
Several kindreds have been described since this
condition was defined in 1974. It is fully expressed in Wales only.
Transmitted as an X-linked trait with
tentative mapping to the short arm of chromosome X (Xp21.1-p22.3,
Xp22.3-p21.1, and Xp22.3-p22.2).
Congenital cataracts with impaired vision, extra
incisors, anteverted pinnae, short fourth metacarpals, and variable
anomalies. Mental deficiency is present in some patients.
Typical features of the disease are cataracts and dental
anomalies; worse in related males than in females.
Males have dense nuclear cataracts and
microcorneas, whereas heterozygous females have posterior Y-sutural
cataracts, small corneas, and only slightly reduced vision. Teeth show
nonsyphilitic hutchinsonian incisors, supernumerary teeth, irregular
diastema, and cone-shaped incisors. Dolichocephaly and mandibular
prognathism occur, with a high nasal bridge, prominent, anteverted pinnae,
and short metacarpals. Developmental delay may be seen. Patients have a
marfanoid habitus, and males are often blind.
No literature about this condition
and anesthesia. Patients may be blind or mentally handicapped.
Dentition may lead to difficulties in
direct laryngoscopy and tracheal intubation, as may oral anomalies. Blind
and/or mentally handicapped children need much reassurance. The presence of a parent and/or
premedication may help when airway difficulties are not expected.
No specific interactions.
Walpole IR, Hockey A, Nicoll A: The Nance-Horan syndrome. J Med Genet
Zhu D, Alcorn DM, Antonarakis SE, et al: Assignment of the Nance-Horan
syndrome to the distal short arm of the X chromosome. Hum Genet