3q26q27 microdeletion syndrome

Orpha code: 356947OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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