3p- syndrome
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
MONDO:0016885
partial deletion of the short arm of chromosome 3
is_a
MONDO:0017393
blepharophimosis - intellectual disability syndrome
is_a
3p deletion
related
3p monosomy
related
3p- syndrome
exact
Chromosome 3, Monosomy 3p
exact
Del(3p) syndrome
related
chromosome 3, monosomy 3p25
related
chromosome 3p deletion
related
chromosome 3p- syndrome
related
chromosome 3pter-p25 deletion syndrome
exact
deletion 3p
related
deletion 3p25
related
distal 3p deletion
exact
distal monosomy 3p
exact
distal monosomy type 3p
exact
monosomy 3p
related
monosomy 3pter
exact
partial monosomy 3p
related
telomeric monosomy 3p
exact