Diseases [C] » Hemic and Lymphatic Diseases [C15] » Hematologic Diseases » Blood Platelet Disorders » Thrombocytopenia » Jacobsen Distal 11q Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Jacobsen Distal 11q Deletion Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Jacobsen Distal 11q Deletion Syndrome
Description
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. MeSH
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