Monosomy 18q
Synonyms: 18q deletion syndrome | 18q- syndrome | De Grouchy syndrome type 2 | Deletion 18q
A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype most commonly including hypotonia developmental delay short stature growth hormone deficiency hearing loss and external ear anomalies intellectual disability palatal defects dysmorphic facial features skeletal anomalies (foot deformities tapering fingers scoliosis) and mood disorders.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Monosomy 18q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.