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Diseases » Montefiore syndrome » Summary
 

What is Montefiore syndrome?

What is Montefiore syndrome?

  • Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
  • Montefiore syndrome: Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome.
    Source - Diseases Database

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Montefiore syndrome as a "rare disease".
Source - Orphanet

Montefiore syndrome: Introduction

Types of Montefiore syndrome:

Broader types of Montefiore syndrome:

How serious is Montefiore syndrome?

Complications of Montefiore syndrome: see complications of Montefiore syndrome

What causes Montefiore syndrome?

Causes of Montefiore syndrome: see causes of Montefiore syndrome

What are the symptoms of Montefiore syndrome?

Symptoms of Montefiore syndrome: see symptoms of Montefiore syndrome

Complications of Montefiore syndrome: see complications of Montefiore syndrome

Montefiore syndrome: Testing

Diagnostic testing: see tests for Montefiore syndrome.

Misdiagnosis: see misdiagnosis and Montefiore syndrome.

How is it treated?

Doctors and Medical Specialists for Montefiore syndrome: Neonatologist ; see also doctors and medical specialists for Montefiore syndrome.
Treatments for Montefiore syndrome: see treatments for Montefiore syndrome

Name and Aliases of Montefiore syndrome

Main name of condition: Montefiore syndrome

Other names or spellings for Montefiore syndrome:

Shprintzen-Goldberg syndrome Source - Diseases Database

 

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