Preferred Label : Jacobsen syndrome;
ICD-11 definition : Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous
gene syndrome caused by partial deletion of the long arm of chromosome 11. The most
common clinical features include pre- and postnatal growth retardation, psychomotor
retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism,
ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal
bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears).
Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at
birth. Patients commonly have malformations of the heart, kidney, gastrointestinal
tract, genitalia, central nervous system and skeleton.;
ICD-11 synonym : 11q23.3 deletion syndrome; Monosomy 11q23.3; Monosomy 11qter; Telomeric deletion 11q; 11q23.3 microdeletion sdynrome;
Origin ID : 27788176;
Currated CISMeF NLP mapping
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous
gene syndrome caused by partial deletion of the long arm of chromosome 11. The most
common clinical features include pre- and postnatal growth retardation, psychomotor
retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism,
ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal
bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears).
Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at
birth. Patients commonly have malformations of the heart, kidney, gastrointestinal
tract, genitalia, central nervous system and skeleton.
