Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia,[1]:578 is a rare form of short-limbed dwarfism due to skeletal dysplasia. It was first reported in 1965 by McKusick et al.

What is cartilage-hair hypoplasia?
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); ...

Cartilage-hair hypoplasia
Autosomal recessive
Short-limbed dwarfism, common and opportunistic infections ...

Cartilage-hair hypoplasia-like syndrome ... short stature
Cartwright-Nelson-Fryns syndrome ... retarded growth
Cat Eye Syndrome ... mild mental retardation, short stature, failure to thrive, underdeveloped kidneys
Cat's cry ... failure to thrive ...

Cartilage-Hair Hypoplasia
Cast and Splint Care Tips
Castleman Tumor
Castleman's Disease
Cat Bite
Cat Eye Syndrome
CAT Scan, Body - Medical Test
CAT Scan, Head and Face - Medical Test
CAT Scan, Spine - Medical Test
Cat Scratch Disease ...

Anauxetic dysplasia is caused by different RMRP mutations than those that cause cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis. People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities.

There are a number of disorders in which Hirschsprung disease is a feature. They include Down syndrome), Waardenburg syndrome, cartilage-hair hypoplasia, ...

See also: Symptom, Dysplasia, Dental, Dwarfism, Deficiency