/chromosome 13q14 deletion syndrome

chromosome 13q14 deletion syndrome

Rare Disease

MONDO:0013481

Also Known As

Del(13)(q14)chromosome 13q14 deletion syndromechromosome 13q14 deletion syndrome, isolated casesdel(13q14)deletion 13q14monosomy type 13q14chromosome 13Q deletion syndromemonosomy 13q14

Definition

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.