Langer-Giedion syndrome (LGS), also called trichorhinophalangeal syndrome type II (TRPS2) or LGCR (for "Langer-Giedion Chromosome Region"), is a very uncommon autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 dominant genetic disorder

Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....

 caused by a deletion

Genetic deletion

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome...

 of chromosomal

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

 material. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis

Medical diagnosis

Medical diagnosis refers both to the process of attempting to determine or identify a possible disease or disorder , and to the opinion reached by this process...

 is usually made at birth or in early childhood.

The syndrome occurs when a small piece of chromosome 8

Chromosome 8 (human)

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells....

’s long arm, which contains a number of gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

s is missing. The loss of these genes is responsible for some of the overall characteristics of Langer-Giedion syndrome.

Symptoms

The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head

Human skull

The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...

 and skeletal

Human skeleton

The human skeleton consists of both fused and individual bones supported and supplemented by ligaments, tendons, muscles and cartilage. It serves as a scaffold which supports organs, anchors muscles, and protects organs such as the brain, lungs and heart....

abnormalities including bony growths projecting from the surfaces of bones. Typically individuals with Langer-Giedion syndrome have fine scalp hair, ears that may be large or prominent, broad eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip, and missing teeth.

Treatment

While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions.