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 "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated