Contributed by: Dr Shubha Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India
	Email: Bijarnia@gmail.com
	This two-year-old boy was brought for evaluation of short lower limbs and cleft palate. Identify the condition.
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Answer to PhotoQuiz 64

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome(CEDNIK syndrome) (OMIM #609528)

CEDNIK syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the SNAP29 gene (OMIM * 604202). This disorder is associated with global developmental delay, intellectual disability, microcephaly, seizures, ocular anomalies, hearing loss, dysmorphic facial features, neuropathy, palmoplantar keratoderma and ichthyosis. Intracranial anomalies detected on neuroimaging include cerebral dysgenesis, absence of the corpus callosum, cortical dysplasia, and white matter abnormalities.

Correct responses were given by:

1. Dr Ranjana Mishra. Yashoda Hospital and Research Centre, Ghaziabad, India. 2. Dr Surya G Krishnan. Centre for Human Genetics, Bangalore, India.