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.
Nguyen syndrome
Introduction
Overview
Overview
Nguyen syndrome is a rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
Diagnosis
Diagnosis
Symptoms
- Obesity
- Severe growth retardation
Physical Examination
HEENT
- Small head
- Facial anomalies
- Epicanthal folds
- Short nose
- Low nose bridge
- Anteverted nostrils
- High arched palate
Neurological
- Underdeveloped frontal brain lobes
- Severe cognitive impairment
- Behavioral problems
- Mental retardation
Extremities
- Poor infant muscle tone
- Camptodactyly of 4th and 5th fingers
- Partial webbing of 2nd and 3rd toes
Other
Laboratory Findings
- Low blood cholesterol
- Low blood betalipoprotein level
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S