Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Osteochondrodysplatic dwarfism — deafness — retinitis pigmentosa
Introduction
Overview
Overview
Osteochondrodysplatic dwarfism — deafness — retinitis pigmentosa is an autosomal dominant disease characterized by dwarfism and musculoskeletal problems along with deafness and eye problems.
Pathophysiology
Pathophysiology
The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance.[1]
There is no associated metabolic abnormality
Epidemiology and Demographics
Epidemiology and Demographics
Osteochondrodysplatic dwarfism — deafness — retinitis pigmentosa has a prevalence of <10/100000.
Diagnosis
Diagnosis
Symptoms
- Sensorineural deafness
- Restricted joint mobility
- Spine problems
- Vision problems – night blindness
Physical examination
Appearance of the patient
The patient is short statured with a curved back.
Ear
Eye
- Vision problems – due to retinitis pigmentosa
Back
- Abnormal curvature of the spine
Neurologic
- Mental retardation – decreased intellectual capacity
Imaging
X-ray
Radiographs showed:
- Diffuse osteoporosis
- Severe retardation of bone-age
- Dysplasia of the femoral head
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]