Living with Thong Douglas Ferrante syndrome
A very rare genetic condition with short stature, hearing loss, no speech, and repeated infections.
Understanding Thong Douglas Ferrante syndrome
People also have a lack of speech (mutism) and differences in the face. The repeated infections are linked to abnormal movement of infection-fighting white cells (neutrophils). It starts during pregnancy and is noticed at birth. GARD says there have been no further descriptions in the medical literature since 1978.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Hearing loss (sensorineural)
- Inability to speak (mutism)
- Early closing of skull seams (craniosynostosis)
- Glaucoma
- Differences in how the immune system works
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 genes (variants) cause this condition, but it doesn't name a specific gene.
Also known as: short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome; short stature deafness neutrophil dysfunction; short stature-deafness-neutrophil dysfunction-dysmorphism syndrome; short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome; thong-douglas-ferrante syndrome
Patient organizations
Rare-disease groups that can help
- 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 Thong Douglas Ferrante syndrome.
Explore research for Thong Douglas Ferrante syndrome
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