Living with Distal monosomy 9p syndrome
A rare chromosome condition that can affect learning, head and facial shape, the fingers, and the genital and urinary systems.
Understanding Distal monosomy 9p syndrome
Effects vary widely. People often have intellectual disability and a triangle-shaped forehead (trigonocephaly), along with other facial and finger differences. Genital and urinary differences are frequent. Some have an underactive thyroid from birth or heart defects. GARD says there is an increased risk of a type of growth called gonadoblastoma. Signs begin in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Intellectual disability
- Low muscle tone (hypotonia)
- Hernia
- Hypospadias (opening of the urethra in a different place)
- Short fingers or toes (brachydactyly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in a person's genes cause this condition. The summary describes it as a partial loss of the short arm of chromosome 9.
Also known as: distal deletion 9p; distal monosomy 9p; distal monosomy type 9p; monosomy 9pter; telomeric deletion 9p
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal monosomy 9p syndrome.
Explore research for Distal monosomy 9p syndrome
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