Living with Dysmorphism-short stature-deafness-disorder of sex development syndrome
A rare inherited condition with distinct facial features, short height, deafness, cleft palate, and differences in sex development.
Understanding Dysmorphism-short stature-deafness-disorder of sex development syndrome
People have distinct facial features, deafness, a cleft palate, short height, and delays in growth and development. Sex development differences, such as hypospadias, can occur. Other features listed include a small head, low muscle tone, feeding difficulties, repeated breathing infections, and high blood pressure in the lungs. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Short height
- Severe intellectual disability
- Small head size (microcephaly)
- Low muscle tone (hypotonia)
- Repeated respiratory infections
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 brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- 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 a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dysmorphism-short stature-deafness-pseudohermaphroditism syndrome; dysmorphism-short stature-hearing loss-disorder of sex development syndrome; dysmorphism, short stature, deafness, disorder of sex development syndrome; dysmorphism, short stature, deafness, pseudohermaphroditism syndrome; ieshima-koeda-inagaki 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 Dysmorphism-short stature-deafness-disorder of sex development syndrome.
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