Abstract

Amsterdam dwarfism syndrome is a developmental disorder characterised by slow growth before and after birth with disorders affecting many parts of the body including growth and intelligence with almost a complete life expectancy.
A 4 year old boy presented to the ophthalmology OPD being referred from paediatrics department for ophthalmic examination with features of global developmental delay and syndromic facies. On evaluation the child follows light and reaches for objects. Ophthalmic findings were long eyelashes, downward slanting of palpebral fissure, short palpebral fissure length with normal anterior segment and fundus examinations. Systemic examination showed severe intellectual disability, restricted growth, malformed finger and toes with hirsutism. Syndromic facies showed microcephaly, synorphys, downward turning of corners of mouth, long philtrum, concave nasal bridge with upward pointed nose.