chromosome 16p13.3 duplication syndrome
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
MONDO:0016949
partial duplication of the short arm of chromosome 16
is_a
16p13.3 duplication
related
16p13.3 microduplication syndrome
exact
chromosome 16p13.3 duplication
related
chromosome 16p13.3 duplication syndrome
exact
chromosome 16p13.3 duplication syndrome, isolated cases
exact
distal duplication 16p
exact
distal trisomy 16p
exact
dup(16)(p13.3)
exact
interstitial 16p13.3 duplication
related
telomeric duplication 16p
exact
trisomy 16pter
exact