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Zimmermann-Laband syndrome
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Zimmermann-Laband syndrome

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Synopsis

A rare autosomal dominant disorder of an ATPase with multisystemic findings: the face has gingival fibromatosis and abnormalities of the nose and/or ears; the hands have hypoplasia of the nails (may include congenital micronychia) or terminal phalanges of the hands and feet. Other defects include hyperextensibility of joints, hepatosplenomegaly, hirsutism, and intellectual disability.

For more information on Zimmermann-Laband syndrome 1, see OMIM.

For more information on Zimmermann-Laband syndrome 2, see OMIM.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
699447001 – Zimmermann-Laband syndrome

Best Tests

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References

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Last Updated: 03/29/2017
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Zimmermann-Laband syndrome
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Zimmermann-Laband syndrome : Hepatomegaly, Gingival hypertrophy, Hirsute, Splenomegaly
Copyright © 2019 VisualDx®. All rights reserved.