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.
Mental retardation-blepharophimosis-obesity-web neck
Introduction
Overview
Overview
A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
Diagnosis
Diagnosis
Physical Examination
General
HEENT
- Blepharophimosis
- Webbed neck
- Low hair line at nape
- Small teeth
- Small jaw
- Glaucoma
- Short head
- Downturned mouth
- Low set ears
- Absent upper lip groove
- Nystagmus
- Short neck
- Short nose
- Sparse scalp hair
- Upslanted space between eyelids
- Posterior angulation of ears
- Abnormal ears
- Epicanthic folds
- Wide set eyes
- Sparse eyebrows
- Absent eyebrows
- Anteverted nostrils
Chest
- Small nipples
- Absent nipples
- Narrow rib cage
Neurological
- Mental retardation
Extremities
- Short fingers
- Curved fifth finger
- Speech defect
Other
- Abnormal shoulder blades
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S