Intrautererine growth restriction (IUGR) is a term used to describe a small for gestational age infant. Severe IUGR is defined as a birth weight less than the 3rd percentile. Normal term infants typically weigh more than 2500g by 37 weeks gestation.
Dyskeratosis congenita - The severe infant-onset form of this disease (Hoyeraal-Hreidarsson syndrome) presents with IUGR, enteropathy, failure to thrive, cerebellar hypoplasia, and combined immunodeficiency.
Nijmegen breakage syndrome - Patients are often small for gestational age at birth. The majority (75%) of patients are also severely micocephalic at birth (<3rd percentile). In the remainder of patients, microcephaly develops during early infancy. Additional features of this disease include bird-like facies (sloping forehead, receding chin, long nose), vitiligo, café au lait spots, and immunodeficiency (humoral and T cell defects have been described).
Cernunnos deficiency - Patients are characterized by IUGR, microcephaly, growth retardation, bird-like facies, and radiosensitive combined immunodeficiency.
DNA Ligase IV - Patients have IUGR, microcephaly, growth retardation, bird-like facies, developmental delay, and radiosensitive combined immunodeficiency.
Schimke Immune-Osseous Dysplasia
Schimke immune-osseous dysplasia - Patients have IUGR, short stature, spondyloepiphyseal dysplasia, defective cellular immunity, and progressive renal failure.
Mulvihill-Smith syndrome - Patients are characterized by IUGR and postnatal growth retardation, microcephaly, multiple pigmented nevi, reduced facial fat, and high pitched voice. A progressive combined immunodeficiency has been described.
ATR Seckel Syndrome
ATR Seckel syndrome - Patients are characterized by IUGR, dwarfism and microcephaly.