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[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]
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
- 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
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Microphthalmia syndromic 9 is a rare disease.
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