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Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Progressive microcephaly

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

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PMID (PMCID)
20353920	FEMALE	Child
	[Nijmegen Breakage syndrome].
	Erdos M, Toth B, Juhasz P, Mahdi M, Marodi L. Orv Hetil. 2010;151(16):665-73.
	Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation.