Here, we report on a patient previously diagnosed as probably having NBS, with microcephaly, mental retardation, 'bird-like' face, and short stature. [ncbi.nlm.nih.gov]

Definition A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. [uniprot.org]

stature 1 individual reported to-date Sensitivity to ionizing radiation Hannover; 2009 PMID 19409520 -- "Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder." [en.wikibooks.org]

The proband had short stature, microcephaly, dysmorphic features, a bird-like face, lack of eyelashes, macules on the chest, and skin infections since childhood. [funpecrp.com.br]

Also, it is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. [checkorphan.org]

Besides all that, infectious changes of oral mucosa can be the reason of pain and malnutrition. Conclusion Our results suggest that there is a predisposition to pathological conditions in the oral cavity of NBS patients. [czytelniamedyczna.pl]

speech development Infertility in both sexes Low birthweight Short stature Sparse hair Facial features of NBS In addition to the clinical features listed above, all NBS patients have similar facial features. [forgottendiseases.org]

Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes. [bredagenetics.com]

Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes. [bredagenetics.com]

They have short stature, failure to thrive and mental retardation. In these patients chromo-some studies show elevated frequencies of spontaneous chromosome aberrations com-pared with those in normal(57). [indianpediatrics.net]

Signs and symptoms Virtually all patients with NBS have microcephaly, or a small head size (in the lower 3%), with about 75% having this feature present at birth. Young children with NBS show impaired growth. [encyclopedia.com]

Also, it is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. [checkorphan.org]

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size ( microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other [ghr.nlm.nih.gov]

Signs and symptoms A key feature of NBS is microcephaly, or a very small head. This problem is usually evident at birth, thought it may appear in the first year of life in some patients. [forgottendiseases.org]

ataxia is absent; alphafoetoprotein levels are normal, in contrast to AT patients. craniofacial dysmorphy: progressive and severe microcephaly, "bird-like" face with prominent midface, long nose and receding mandible immunodeficiency: severe combined [atlasgeneticsoncology.org]

However, the first two do not have ocular motor abnormalities, cerebellar ataxia, or neuropathy. [tremorjournal.org]

Patients may later develop life-threatening infections leading to generalized sepsis like meningitis, pneumonia, cellulitis, empyema or septic arthritis. [bredagenetics.com]

[…] include microcephaly presenting at birth (or even in utero ), bird-like facial features, variable growth delay and mental retardation, hyper- or hypopigmented skin lesions, various organ malformations (poly-syndactyly, kidney anomalies, hypospadias, cryptorchidism [frontiersin.org]