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Ataxia Telangiectasia
The exam may show signs of the following: Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual[medlineplus.gov]
[…] deep tendon reflexes multiple skin changes including eczema and "coffee-with-milk"x colored spots incomplete development of tonsils, lymph nodes, and spleen (hypoplasia)[healthofchildren.com]
[…] apraxia) squint of ocular muscles speech defect (dysarthria) slow, writhing motions (choreoathetosis) lack of T-lymphocytes (thymic aplasia) albinism of hair decreased to absent[healthofchildren.com]
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X-Linked Severe Combined Immunodeficiency
The clinical presentation during the first year of life almost universally includes failure to thrive, oral/diaper candidiasis, recurrent infections, absent tonsils and lymph[genedx.com]
Many infants with X-linked SCID develop chronic diarrhea, candidiasis, skin rashes, failure to thrive, and absent tonsils and lymph nodes.[invitae.com]
[…] lymphatic tissue, including tonsils and thymus Evaluation Diagnosis often delayed due to maternal IgG protecting baby in first few months of life Lymphocyte count ( 3000[medbullets.com]
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Tonsillectomy
It is believed that tonsils and adenoids are most beneficial during the first year of life and that other lymph nodes make up for the absent tonsils and adenoids after removal[fortworthent.net]
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Kawasaki Disease
Patients with XLA have recurrent infections and physical examination have absent lymph nodes and tonsils.[ncbi.nlm.nih.gov]
Laboratory investigations reveal hypogammaglobulinemia and reduced or absent B cells on flow cytometry. KD is a medium vessel vasculitis.[ncbi.nlm.nih.gov]
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Warsaw Breakage Syndrome
Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes.[bredagenetics.com]
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Velopharyngeal Insufficiency
Convert to ICD-10-CM : 750.29 converts directly to: 2015/16 ICD-10-CM Q38.8 Other congenital malformations of pharynx Approximate Synonyms Absent tonsils Asymmetric tonsils[icd9data.com]
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Nijmegen Breakage Syndrome-Like Disorder
Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes.[bredagenetics.com]
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Congenital Velopharyngeal Incompetence
Convert to ICD-10-CM : 750.29 converts directly to: 2015/16 ICD-10-CM Q38.8 Other congenital malformations of pharynx Approximate Synonyms Absent tonsils Asymmetric tonsils[icd9data.com]
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Agammaglobulinemia
Diagnosis of XLA Diagnosis of XLA or ARA should be considered in patients with recurrent or severe bacterial infections that also have small or absent tonsils and lymph nodes[immunedisease.com]
Affected boys have a profound defect in B lymphocyte development resulting in severe hypogammaglobulinemia, absence of circulating B cells, small to absent tonsils, no palpable[journals.lww.com]
Screening for XLA begins with a blood test that looks for the presence of immunoglobulins, because all of the immunoglobulins (IgG, IgM, and IgA) are absent or exist only[immunedisease.com]
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Autosomal Recessive Osteopetrosis 7
tonsils and adenoids; palpable lymph nodes are absent; hepatosplenomegaly; complete absence of hair or eyebrows; severe eczema; oral thrush; Candida skin infections Profound[academic.oup.com]
(tonsils, lymph nodes); with or without absent thymic shadow on chest radiographs; thrush; chronic diarrhea, failure to thrive, rashes Severe age-adjusted lymphopeniaabsent[academic.oup.com]