An inherited congenital condition affecting both sexes characterized by cataracts, impaired vision, supernumerary central incisor (mesiodens), incisor diastemas, narrowed incisal edges, anteverted pinnae and short fourth metacarpals. In some patients, developmental delay, and mental retardation. It is transmitted as an X-linked trait.

It is a hereditary disorder characterized by association in male patients with congenital cataracts, micro cornea, dental abnormalities and facial dysmorphism. There will be also mental retardation associated in around 30% of cases. It is genetic disorder due to mutation in the male gametes. It is very rare disease.

 

It is an X-linked condition which is characterized by congenital cataracts, micro cornea, microopthalmia, Dysmorphic facial features, unusual dental morphology and developmental delay is certain cases.

 

Clinical findings:

Ocular findings: Congenital cataract, microcornea, microphthalmia, Nystagmus, strabismus, visual impairment. Surgery is usually required to correct the visual impairment.

 

Dental abnormalities like Hutchison’s teeth which is screwdriver-shaped or conical sometimes with medial notch or an irregular incisal edge.

The canines will be enlarged, globular and dome-shaped or bud shaped with trilobite edge.

Premolars and molars are rounded, globular and sometimes small. The common presence of central supernumerary cusps giving it a mulberry or lotus flower shape.

Other abnormalities are super numery teeth, posterior teeth or incisors. Dental agenesis, impacted teeth are very common.

Presence of mesiodens which is the median incisors located behind the normal upper incisors.

Diastema is seen in incisors, upper incisors.

Malpositions or mal implantations.

Late persistence of deciduous teeth, pulp chamber anomalies like taurodontism, wide pulp chambers, abnormally calcified pulps, pulp stones.

 

Dysmorphic features:

• Long, narrow rectangular face.
• Marked, long, vertical chin and prognathism.
• Large nose with high, narrow bridge.

 

Mental retardation

 

Treatment:

• Ocular abnormalities require surgery like cataract extraction. The results are very poor.
• Dental anomalies require orthodontic treatment.
• Intellectual impairment require special education.