12q14 microdeletion syndrome

Also known as: Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome

Definition

Orphanet

12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Osteopoikilosis Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Other Classifiers and IDs