Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 1

MED13L syndrome

Description

MED13L syndrome is a developmental disorder characterized by developmental delay,

intellectual disability, and minor differences in facial features. Additionally, some people

with this condition have recurrent seizures (epilepsy) or heart abnormalities that are

present from birth (congenital heart defects).

Intellectual disability and developmental delay are usually moderate to severe in people

with MED13L syndrome. Weak muscle tone (hypotonia) and delayed development of

Most people with MED13L syndrome have unusual facial features that consist of a

depressed nasal bridge, a bulbous nasal tip, straight eyebrows, outside corners of the

eyes that point upward (upslanting palpebral fissures), full cheeks, and an open mouth.

Other facial features that sometimes occur are a pronounced double curve of the upper

lip (Cupid's bow), and a deep space between the nose and upper lip (philtrum).

Different congenital heart defects can occur in MED13L syndrome. Affected individuals

may have transposition of the great arteries, which is abnormal positioning of the large

blood vessel that distributes blood from the heart to the rest of the body (aorta) and the

artery that carries blood from the heart to the lungs (the pulmonary artery). Other

congenital heart defects in MED13L syndrome include a hole between the two lower

literature.

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 2

Causes

As its name suggests, MED13L syndrome is caused by mutations in a gene known as

MED13L. This gene provides instructions for making a protein that helps regulate gene

activity; it is thought to play an essential role in development both before and after birth.

The MED13L gene mutations that cause this condition alter the function of the MED13L

protein or reduce the amount of protein present, impairing normal control of gene

activity. It is unclear how these changes lead to the particular developmental and

physical features of MED13L syndrome.

cases of this condition result from new (de novo) mutations in the gene that occur

during the formation of reproductive cells (eggs or sperm) or in early embryonic

development. These cases occur in people with no history of the disorder in their family.

Very rarely, the condition is inherited from a parent with mosaicism. In these instances,

the parent has a MED13L gene mutation in a small number of cells, including

reproductive cells (eggs or sperm), and does not show any signs or symptoms of

MED13L syndrome.

Other Names for This Condition

• Asadollahi-Rauch syndrome

• MRFACD

Additional Information & Resources

Genetic Testing Information

• Genetic Testing Registry: Cardiac anomalies - developmental delay - facial

dysmorphism syndrome (https://www.ncbi.nlm.nih.gov/gtr/conditions/C4225208/)

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 3

Genetic and Rare Diseases Information Center

• MED13L haploinsufficiency syndrome (https://rarediseases.info.nih.gov/diseases/12

Catalog of Genes and Diseases from OMIM

• IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL

FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD (https://omim.org

/entry/616789)

Scientific Articles on PubMed

• PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=%28%28MED13L+syndrome%5B

TIAB%5D%29+OR+%28MED13L%5BTI%5D%29%29+AND+english%5Bla%5D+A

intellectualdisability. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.

2013.17.Epub 2013 Feb 13. Citation on PubMed (https://pubmed.ncbi.nlm.nih.gov/2

3403903) or Free article on PubMed Central (https://www.ncbi.nlm.nih.gov/pmc/articl

es/PMC3778355/)

• Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.

Genotype-phenotype evaluation of MED13L defects in the light of a noveltruncating

and a recurrent missense mutation. Eur J Med Genet. 2017Sep;60(9):451-464. doi:

10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21. Citation on PubMed (https://pubme

d.ncbi.nlm.nih.gov/28645799)

• Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A,Ricciardi S,

• Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, BedoukianEC,

Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R,

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 4

Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A,Doco-

Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C,

Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B,

Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, MignotC,

Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, SantaniA,

Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C,

Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A,

Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. MED13L-

relatedintellectual disability: involvement of missense variants and delineation of

thephenotype. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-

on PubMed Central (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749/)

• Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.

MED13Lhaploinsufficiency syndrome: A de novo frameshift and recurrent

intragenicdeletions due to parental mosaicism. Am J Med Genet A. 2017 May;173(5):

s://pubmed.ncbi.nlm.nih.gov/28371282)

Last updated May 1, 2019