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Disease Profile

Microphthalmia syndromic 9

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q11.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MCOPS9; Matthew Wood syndrome; Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2470

Definition
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.

Clinical description
One foetus also had micrognathism, cleft palate, upturned nasal tip with short upper lip and low-set ears. Pathologic findings included no obvious lobulation of the hypoplastic lungs, the heart had a single ventricle with hypoplastic left atrium, the spleen was hypoplastic and the uterus bicornuate. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect (eventration or hernia), and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect (organs developing simultaneously at approximately the fourth week of gestation). The autosomal recessive condition is referred to as Matthew-Wood syndrome and was probably named after one of the affected children. In the sib pair, the male infant survived for only 1 hour. Termination of pregnancy was performed in the case of the female foetus at 18 weeks of gestation because of findings of bilateral anophthalmia and hypoplastic lungs on ultrasound scan.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microphthalmia
Abnormally small eyeball
0000568
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Congenital diaphragmatic hernia
0000776
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
5%-29% of people have these symptoms
Abnormal spleen morphology
0025408
Abnormality of the uterus
Uterine abnormalities
Uterine malformations

[ more ]

0000130
Annular pancreas
0001734
Aplasia/Hypoplasia of the pancreas
Absent/small pancreas
Absent/underdeveloped pancreas

[ more ]

0100800
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Duodenal stenosis
0100867
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Horseshoe kidney
Horseshoe kidneys
0000085
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Muscular hypotonia
Low or weak muscle tone
0001252
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Truncus arteriosus
0001660
Vesicoureteral reflux
0000076
Percent of people who have these symptoms is not available through HPO
Agenesis of pulmonary vessels
Absent lung vessels
0005311
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

0000813
Bilateral lung agenesis
Absent lungs
0005944
Bilateral microphthalmos
Abnormally small eyeball on both sides
0007633
Blepharophimosis
Narrow opening between the eyelids
0000581
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Diaphragmatic eventration
0009110
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hydronephrosis
0000126
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus

[ more ]

0000013
Hypoplastic left atrium
0005156
Hypoplastic spleen
Underdeveloped spleen
0006270
Inguinal hernia
0000023
Intellectual disability, profound
IQ less than 20
0002187
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Multilobulated spleen
0020186
Patent ductus arteriosus
0001643
Pelvic kidney
0000125
Pulmonary artery atresia
0004935
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Renal malrotation
Abnormal rotation of the kidneys
0004712
Respiratory insufficiency
Respiratory impairment
0002093
Right aortic arch with mirror image branching
0002627
Short stature
Decreased body height
Small stature

[ more ]

0004322
Single ventricle
0001750
Tetralogy of Fallot
0001636
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Microphthalmia syndromic 9. Click on the link to view a sample search on this topic.