10q22.3q23.3 microdeletion syndrome

Orpha code: 276413OMIM code: 612242

Definicja

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(10)(q22.3q23.3)
Del(10)(q22.3q23.3)
Delecja 10q22.3q23.3
Monosomia 10q22.3q23.3
Deletion 10q22.3q23.3
Monosomy 10q22.3q23.3
Kod ORPHA
276413
Kod OMIM
612242
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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