MACS syndrome (macrocephaly, alopecia, cutis laxa & scoliosis syndrome)

Pathology

• disorder of elastic tissue

Genetics

• autosomal-recessive
• associated with defects in RIN2

Clinical manifestations

• sagging skin

Complications

• occasionally, life-threatening visceral complications

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/613075