3q26q27 microdeletion syndrome

Orpha code: 356947OMIM code:

Definicja

3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(3)(q26q27)
Del(3)(q26q27)
Monosomia 3q26q27
Monosomia 3q26-q27
Zespół mikrodelecji 3q26-q27
Monosomy 3q26q27
Kod ORPHA
356947
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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