Overview
Dysmorphism-short stature-deafness-difference of sex development syndrome (also sometimes referred to by its Orphanet code ORPHA:2282) is a very rare condition that affects multiple parts of the body at the same time. It is characterized by a combination of unusual physical features (called dysmorphic features), shorter-than-average height, hearing loss, and differences in how the reproductive organs and sex characteristics develop. These differences in sex development mean that a person's chromosomes, hormones, or reproductive anatomy may not follow the typical male or female pattern. People with this syndrome may have a distinctive facial appearance, growth problems that begin before or shortly after birth, and varying degrees of hearing loss that can affect communication and learning. The differences in sex development can range from mild to more significant and may affect hormone levels, fertility, and physical appearance. Because this syndrome is extremely rare and involves several body systems, care is best managed by a team of specialists. Treatment is focused on managing individual symptoms — there is currently no cure. Early diagnosis allows for timely support, including hearing aids, growth monitoring, hormone therapy if needed, and educational assistance. With the right support, many individuals can lead fulfilling lives.
Also known as:
Key symptoms:
Shorter-than-average height (short stature)Hearing loss (sensorineural or mixed type)Unusual facial features such as widely spaced eyes, low-set ears, or a broad noseDifferences in sex development — reproductive organs or sex characteristics that do not follow a typical male or female patternDelayed growth starting before birth (intrauterine growth restriction)Possible intellectual disability or learning difficultiesAbnormal hormone levels related to sex developmentPossible skeletal differences such as unusual bone structurePossible kidney or urinary tract differencesLow muscle tone in some cases
Clinical phenotype terms (30)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dysmorphism-short stature-deafness-difference of sex development syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dysmorphism-short stature-deafness-difference of sex development syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Dysmorphism-short stature-deafness-difference of sex development syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to find the exact cause of my child's condition?,Which specialists should be part of our care team, and how often should we see each one?,What are the options for managing my child's hearing loss, and when should we start?,How will differences in sex development affect my child's puberty, hormones, and fertility?,Is growth hormone therapy appropriate for my child's short stature?,What psychological or counseling support is available for our family?,Are there any patient registries or research studies we could join to help advance understanding of this condition?
Common questions about Dysmorphism-short stature-deafness-difference of sex development syndrome
What is Dysmorphism-short stature-deafness-difference of sex development syndrome?
Dysmorphism-short stature-deafness-difference of sex development syndrome (also sometimes referred to by its Orphanet code ORPHA:2282) is a very rare condition that affects multiple parts of the body at the same time. It is characterized by a combination of unusual physical features (called dysmorphic features), shorter-than-average height, hearing loss, and differences in how the reproductive organs and sex characteristics develop. These differences in sex development mean that a person's chromosomes, hormones, or reproductive anatomy may not follow the typical male or female pattern. People
At what age does Dysmorphism-short stature-deafness-difference of sex development syndrome typically begin?
Typical onset of Dysmorphism-short stature-deafness-difference of sex development syndrome is neonatal. Age of onset can vary across affected individuals.