Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

19q13.11 microdeletion syndrome

Orpha number ORPHA217346
Synonym(s) Del(19)(q13.11)
Monosomy 19q13.11
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q93.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.