Jacobsen Distal 11q Deletion Syndrome

Overview

A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Jacobsen Distal 11q Deletion Syndrome

Topic type

Condition

Category

General Healthcare

MeSH classification

C15.378.140.855.440|C15.378.243.937.440|C16.131.260.440|C16.320.180.440

Preparing for an appointment about Jacobsen Distal 11q Deletion Syndrome

If you are speaking with a healthcare professional about Jacobsen Distal 11q Deletion Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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