Microphthalmia syndromic 9

From WikiMD's Wellness Encyclopedia

Other Names: MCOPS9; Matthew Wood syndrome; Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; Anophthalmia/microphthalmia and pulmonary hypoplasia; Spear syndrome; Pulmonary agenesis microphthalmi and diaphragmatic defect

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

Epidemiology[edit | edit source]

Only five cases have been reported so far, two of whom were sibs.

Cause[edit | edit source]

The disease are mutations in STRA6 - gene on chromosome 15 locus q24.1 basis.

Inheritance[edit | edit source]

Autosomal recessive inheritance, a 25% chance

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

Signs and symptoms[edit | edit source]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Abnormality of cardiovascular system morphology
  • Congenital diaphragmatic hernia
  • Pulmonary hypoplasia(Small lung)

5%-29% of people have these symptoms

  • Abnormal spleen morphology
  • Abnormality of the uterus(Uterine abnormalities)
  • Annular pancreas
  • Aplasia/Hypoplasia of the pancreas(Absent/small pancreas)
  • Cryptorchidism(Undescended testes)
  • Duodenal stenosis(Failure to thrive)
  • Faltering weight
  • Horseshoe kidney(Horseshoe kidneys)
  • Intrauterine growth retardation(Prenatal growth deficiency)
  • Low-set ears(Lowset ears)
  • Muscular hypotonia(Low or weak muscle tone)
  • Renal hypoplasia(Small kidneys)
  • Truncus arteriosus
  • Vesicoureteral reflux

Diagnosis[edit | edit source]

Treatment[edit | edit source]

NIH genetic and rare disease info[edit source]

Microphthalmia syndromic 9 is a rare disease.


Microphthalmia syndromic 9 Resources
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