The 18p deletion syndrome follows partial or complete deletion in part of the short arm of chromosome 18. This may be unbalanced or part of a balanced translocation.


Clinical features:

(1) mild to moderate growth deficiency

(2) microcephaly

(3) mental retardation, which may range from mild to severe

(4) hypotonia

(5) holoprosencephaly (presence associated with poor prognosis)


Facial findings:

(1) low nasal bridge

(2) epicanthal fold

(3) ptosis

(4) hypertelorism

(5) micrognathia

(6) wide mouth with downturning corners of mouth

(7) large, protruding ears

(8) strabismus

(9) webbed neck


Changes in the extremities:

(1) small hands and feet

(2) clinodactyly in fifth finger (medial or lateral deviation)

(3) syndactyly

(4) talipes equinovarus


Other findings:

(1) increased frequency of dental caries

(2) IgA deficiency or absence

(3) pectus excavatum

(4) restlessness and emotional lability

(5) alopecia

(6) cardiac malformations

(7) genital malformations


To read more or access our algorithms and calculators, please log in or register.