Living with Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
A rare genetic condition present at birth with short height, hearing loss, a small jaw and bone differences.
Understanding Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Babies are born with closed or missing ear canals that cause hearing loss, a small lower jaw, and short stature. They have bone differences, including short upper arm bones, hip problems and clubfeet. Facial features can include a small head, high palate, flat cheeks and pits near the ears. Feeding difficulties are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Missing or closed ear canals
- Hearing loss (conductive)
- Small lower jaw (micrognathia)
- Clubfeet
- Hip dislocation
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 bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in GSC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 lists changes in the GSC gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sams syndrome; short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities; short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
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 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.
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