Overview
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: children born with this condition tend to be shorter than expected (short stature), may have a closed or absent ear canal (auditory canal atresia) which can cause hearing loss, an underdeveloped lower jaw (mandibular hypoplasia), and various bone and skeletal abnormalities. Because the ear canal may be blocked or missing, hearing can be significantly affected, sometimes from birth. The small jaw can sometimes cause difficulties with breathing and feeding, especially in infancy. Skeletal anomalies may include abnormalities of the spine, ribs, or limbs. This syndrome falls under the broader category of conditions involving multiple birth defects (classified under ICD-10 code Q87.1). Because this condition is so rare, the treatment approach is largely supportive and tailored to each patient's specific symptoms. Management typically involves a team of specialists who address hearing loss, jaw and facial differences, growth concerns, and any bone-related problems. Surgery, hearing aids, speech therapy, and growth monitoring are among the interventions that may be considered. Research into this condition is still limited, and there is no specific cure at this time.
Also known as:
Key symptoms:
Short stature or growth delayAbsent or closed ear canalHearing lossSmall or underdeveloped lower jawFacial differencesSkeletal or bone abnormalitiesAbnormalities of the spine or ribsLimb differencesFeeding difficulties in infancyBreathing difficulties due to small jawPossible speech delay due to hearing loss
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies 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 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies 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 is the severity of my child's hearing loss, and what are the best options for hearing support?,Does my child need any immediate intervention for breathing or feeding difficulties?,Should we pursue genetic testing, and what type would be most informative?,Is growth hormone therapy something we should consider?,What surgeries, if any, might be needed for the jaw or ear canal?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
What is Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome?
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: children born with this condition tend to be shorter than expected (short stature), may have a closed or absent ear canal (auditory canal atresia) which can cause hearing loss, an underdeveloped lower jaw (mandibular hypoplasia), and various bone and skeletal abnormalities. Because the ear canal may be blocked or missing, hearing can be significantly affected, sometimes from birth. The small
How is Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome inherited?
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome typically begin?
Typical onset of Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.