Cartilage Hair Hypoplasia: First report from Iran.

[hirschsprung disease]

Cartilage hair hypoplasia (CHH ), is a rare cause of metaphyseal chondrodysplasia and short stature . Other featuresincluded hair abnormality , immunodeficiency , anemia , gastrointestinal disorders (Hirschsprung disease ,celiac , …) and increased risk of cancer . The disease is an autosomal recessive disorder and previously has notbeen reported in Iran . We report a 9 -year -old boy diagnosed as cartilage hair hypoplasia , with severe short stature ,metaphyseal chondrodysplasia , hair hypoplasia , Hirschsprung disease , hypothyroidism , vesicouretral refluxand renal stone . Renal stone and hypothyroidism have been reported in cartilage hair hypoplasia with lower frequencies .This is the first report of cartilage hair hypoplasia in Iran .

Diseases
Validation

Diseases presenting "immunodeficiency" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

cushing syndrome

dracunculiasis

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kabuki syndrome

legionellosis

malignant atrophic papulosis

oculocutaneous albinism

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

primary hyperoxaluria type 1

pyomyositis

severe combined immunodeficiency

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated