Autosomal dominant collagen disease.

Synopsis

 short stature
 pinched nose
 thin nose
 thin lips
 lobeless ears
 keratoconus
 periodontal disease
 early loss of teeth
 mitral valve prolapse
 spontaneous pneumothorax
 hemoptysis
 inguinal hernia
 spontaneous rupture of bowel
 uterine rupture associated with pregnancy
 uterine prolapse
 bladder prolapse
 hypermobility of distal interphalangeal joints
 acroosteolysis
 club foot
 acroosteolysis
 fragile skin
 easy bruisability
 cigarette-paper scars
 atrophic skin over ears
 prominent venous markings
 absent-mild skin hyperextensibility
 skin changes worse in areas of lower skin temperature
 molluscoid pseudotumors
 acrogeria (skin over hands and feet are thin and finely wrinkled)
 alopecia of scalp
 premature delivery because of cervical insufficiency or membrane fragility
 death usually occurs before 5th decade

 arterial anomalies

• coronary arteriomegaly
• arterial aneurysms
  • intracranial aneurysms

• spontaneous arterial rupture
• bilateral renal artery dissection
• hematoma of the ascending aorta

 spontaneous hepatic rupture (#10852630#, #9286240#)

Associations

 hepatic epithelioid hemangioendothelioma
 situs solitus with dextrocardia

Etiology

 germline mutations in the gene COL3A1 coding for type III collagen (COL3s) (MIM.120180)