The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
To date, the syndrome has been identified in five patients.
Minor dysmorphic features include a long face, high forehead, retrognathia, thin lips, V shaped nasal tip, hypoplastic alae nasi, prominent columella, and large and simple ears.
The microdeletion was identified by microarray-based comparative genomic hybridization (aCGH). Haploinsufficiency of one or more genes in the 19q13.11 region could cause this microdeletion syndrome. The careful clinical examination and the molecular characterization of additional patients with a similar chromosomal anomaly are needed to further delineate the clinical features and refine the minimal critical region.
Last update: February 2010
- Dr Nicole MORICHON-DELVALLEZ