19q13.11 Deletion

Deletions of the 19q13.11 segment are not very common, but represent a recognizable syndrome. Individuals with deletions on the long arm of chromosome 19 encompassing the q13.11 region are characterized by intellectual and developmental delays, growth restriction, ectodermal dysplasia, and certain organ malformations¹.

Deletions of the 19q13.11 region cause individuals to present with developmental and intellectual delays that may be severe. Oftentimes, language delay is very prevalent². For example, one case report detailed a child who was not able to achieve independent walking until age 18 months and had absent speech at 14 years of age1. Additionally, individuals may present with poor balance, clumsiness, or hypotonia¹.

Many individuals with 19q13.11 deletions will present with both prenatal and postnatal growth delays³. It is common for infants with this deletion to have difficulty feeding, which may exacerbate any growth restrictions they already have³. Additionally, some individuals may present with microcephaly in combination with their growth delays¹.

One key feature that can vary amongst individuals who have 19q13.11 deletions is the presence of ectodermal dysplasia. Ectodermal dysplasias are a group of disorders that affect the hair, eyebrows, eyelashes, skin, nails, and sweat glands². The most remarkable finding is congenital aplasia cutis, usually affecting the scalp⁴. It is thought that the presence of cutis aplasia may be caused by deletion of the UBA2 gene which plays an important role in healing various skin ulcers⁵. Other manifestations of ectodermal dysplasia in these persons include sparse eyebrows, eyelashes, and hair, hypodontia or rudimentary shaped teeth, and brittle nails^1,3.

Deletions of 19q13.11 may also cause certain organ malformations. In males, hypospadias is common and is thought to be caused by deletion of the WTIP gene^1,2. Additional organ malformations can sometimes include congenital heart defects, such as ventricular septal defect, but are not commonly seen among most people with this deletion³.

Additionally, there are various facial features that may be present in individuals with 19q13.11 deletions. This includes a long face, retrognathia, short philtrum, thin lips, low set ears, prominent ears, broad nasal bridge, and upturned nares^1,2,3.

References

¹Gana S, Veggiotti P, Sciacca G, et al. (2012). 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet. 20(8):852–856.
²Abe KT, Rizzo IMPO, Coelho ALV, et al. (2018). 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. Clin Case Rep. 6(7):1300–1307.
³Chowdhury S, Bandholz AM, Parkash S, et al. (2014). Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. Am J Med Genet A. 164A(1): 62–69
⁴Srivastava A, Sharma R, Kadam S, et al. (2025). A Rare Case of Chromosomal Abnormality: 19q13.11 Deletion in a Patient With Aplasia Cutis Congenita and Ambiguous Genitalia. Cureus. 17(4):e82871
⁵Melo JB, Estevinho A, Saraiva J, et al. (2015). Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene. Mol Cytogenet. 8:21.