Brachydactyly Type A1 With Short Stature Scoliosis Microcephaly Ptosis Hearing Loss And Intellectual Disability C3150890
A complex genetic disorder causing short fingers, short stature, curved spine, small head, eyelid drooping, hearing loss, and learning challenges. Requires lifelong coordinated care.
Key facts at a glance
- ICD-10
- Q02
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hearing loss
(otological)Scoliosis
(musculoskeletal)Short stature
(musculoskeletal)Brachydactyly
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Physical therapy for scoliosis and mobility
Physical therapy focuses on strengthening core muscles, improving posture, and managing scoliosis progression through targeted exercises and stretches. Regular sessions can help maintain spinal alignment and prevent further curvature worsening.
Multidisciplinary developmental monitoring
Regular assessments by a team of specialists including audiologists, ophthalmologists, developmental pediatricians, and orthopedists to track all affected systems and intervene early.
Additional treatment options
Strabismus and ptosis surgical correction
Surgical intervention to correct ptosis and strabismus can improve visual function and prevent amblyopia. The timing and extent of surgery depends on the severity of ptosis and associated visual symptoms.
surgicalCognitive and behavioral support services
Individualized educational and psychological support tailored to the patient's intellectual disability level, focusing on adaptive skills, communication, and behavioral management strategies.
psychologicalHearing loss management with hearing aids
Audiological evaluation followed by fitting of appropriate hearing aids or consideration of cochlear implants for severe hearing loss to improve communication and developmental outcomes.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Brachydactyly Type A1 With Short Stature Scoliosis Microcephaly Ptosis Hearing Loss And Intellectual Disability C3150890?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy