Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication, also known as 2q31.1 microduplication syndrome, is a rare genetic disorder characterized by syndactyly affecting the third-fourth fingers and bilateral congenital nystagmus.

Syndactyly-nystagmus syndrome due to 2q31.1 duplication
Other names	2q31.1 microduplication syndrome
The microduplication associated with this condition is autosomal dominant
Specialty	Medical genetics
Symptoms	Mainly syndactyly and congenital bilateral pendular nystagmus
Complications	none
Usual onset	birth
Duration	lifelong (unless surgically corrected)
Causes	genetic mutation (more specifically an autosomal dominant chromosomal microduplication containing HOX genes)
Prevention	none
Prognosis	good
Frequency	rare
Deaths	-

Signs and symptoms

The following list comprises most of the symptoms shown by individuals with this condition:

• Short stature
• Congenital bilateral pendular nystagmus
• Shortening of the radius
• Shortening of the ulna
• Shortening of the tibia
• Shortening of the fibula
• Congenital syndactyly of the fourth to fifth fingers of the hand.

Less common symptoms include:

• Congenital clubfoot
• Complex hand anomalies
• Hypoplastic, triphalangeal thumbs

Complications

There are usually no complications associated with this condition, although the limb shortening and hand anomalies might cause other psychological complications such as social insecurity.

Genetics

This condition is caused by a 1 to 3.8 mb duplication of genetic material on the long arm of chromosome 2, more specifically, a location known as 2q31.1

Diagnosis

For one to be diagnosed with this condition, they have to be physically examined and genetically tested.

Epidemiology

Only 6 cases from 2 families in Korea and France have been described in medical literature.

See also

• Duplication (genetics)