User:P J McGill/Plum Syndrome Sandbox

Introduction

Plum syndrome is a very rare genetic disorder. It is characterized by retinal non-attachment, colobomata, odd facies, eyes set wide, flat face, dislocated hip, abnormal big toe, contractures of the extremities, cleft lip and mono-segmented leucocytes. There may be associated learning difficulties.

Named by Dr. C.M. Plum.

Presentation

While Plum Syndrome is a genetic disorder, Many of the signs of the disorder can be seen in individuals suffering from this disorder. While non-visual symptoms occur, The main diagnosis be observed.

Observable Abnormalities

• Wide distance between eyes
• Small eyes
• Clubfoot
• Flat face
• Dislocated hip
• Abnormal big toe
• Abnormal kneecap
• Absent kneecap
• Long upper lip groove

Non-observable Abnormalities

• Vision loss
• Mental retardation
• ADHD/ ADD

Diagnosis

While many of the disorders seen in Plum Syndrome should be a cause of seeking medical advice, a combination of the disorders will lead to a diagnosis of the disorder. This diagnosis occurs at birth.

Treatment and Prognosis

Each form of Plum Syndrome is different, meaning each individual suffers from different levels of abnormalities. For each symptom, a specialist for the disorder will be able to treat the problem or provide a therapy for the disorder.

Forums and helpful resources

Many medical forums exist for support and medical information. While many websites do not provide information on the topic, rightdiagnosis.net provides helpful information of the disease.