Synonym: 1p36 deletion syndrome
Craniofacial features:
(1) large anterior fontanelle
(2) unibrow
(3) deep-set eyes
(4) epicanthus
(5) flat, wide nasal root/bridge
(6) mandibular hypoplasia
(7) abnormal location of the pinna
(8) pointed chin
(9) microcephaly or brachycephaly
Cerebral and neurological findings:
(1) seizures
(2) hydrocephalus
(3) ventricular hypertrophy
(4) morphological alterations of the corpus callosum
(5) cortical atrophy
(6) delay in myelination
(7) periventricular leukomalacia
(8) periventricular heterotopia
(9) intellectual disability
(10) delay in motor development
(11) delay in communication behavior
(12) delay in language
(13) hearing impairment
(14) vision impairment
(15) hypotonia
Other malformations:
(1) cardiac
(2) endocrine
(3) genitourinary
(4) skin
(5) impaired growth
