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 "anemia" symptom

22q11.2 deletion syndrome

alpha-thalassemia

canavan disease

child syndrome

coats disease

congenital toxoplasmosis

cowden syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dracunculiasis

erythropoietic protoporphyria

esophageal adenocarcinoma

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

omenn syndrome

scrub typhus

sneddon syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated