Microphthalmia syndromic 9

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

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

Cause

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

Inheritance

File:Autorecessive.svg

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

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

• Anophthalmia(Absence of eyeballs)
• Intellectual disability(Mental deficiency)
• Microphthalmia(Abnormally small eyeball)

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

NIH genetic and rare disease info

• NIH info on Microphthalmia syndromic 9

Microphthalmia syndromic 9 is a rare disease.