Micro syndrome

Title

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Other Names:

WARBM; Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism; Warburg micro syndrome

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary

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

Orpha Number: 2510

Definition

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

Epidemiology

Since its initial description, 26 cases of Micro syndrome have been reported in the literature.

Clinical description

With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period.

Etiology

Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. The RAB3GAP gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones. It has been suggested that the hypogenitalism is hypothalamic in origin, and that the ocular and neurodevelopmental defects result from abnormal neurotransmitter vesicular transport and exocytosis.

Diagnostic methods

Ocular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. Pathognomonic ophthalmologic findings include microphthalmia, microcornea, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment.

Differential diagnosis

Micro syndrome should be considered in any infant with congenital cataract.

Management and treatment

There is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended.

Visit the Orphanet disease page for more resources.

Last updated: 1/1/2006

Symptoms 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.

Showing of 40 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aplasia/Hypoplasia of the corpus callosum		0007370
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cerebral visual impairment		0100704
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Delayed puberty	Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]	0000823
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Microphthalmia	Abnormally small eyeball	0000568
Muscular hypotonia	Low or weak muscle tone	0001252
Optic atrophy		0000648
Pachygyria	Fewer and broader ridges in brain	0001302
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short philtrum		0000322
Short stature	Decreased body height Small stature [ more ]	0004322
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
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
30%-79% of people have these symptoms
Abnormality of retinal pigmentation		0007703
Abnormality of visual evoked potentials		0000649
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Clitoral hypoplasia	Small clitoris Underdeveloped clit [ more ]	0000060
Generalized hirsutism	Excessive hairiness over body	0002230
Hypoplasia of penis	Underdeveloped penis	0008736
Hypoplastic labia minora	Underdeveloped inner lips	0000064
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Kyphosis	Hunched back Round back [ more ]	0002808
Low-set, posteriorly rotated ears		0000368
Macrotia	Large ears	0000400
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Scoliosis		0002650
5%-29% of people have these symptoms
Abnormal localization of kidney	Abnormal localisation of kidneys	0100542
Cerebellar vermis hypoplasia		0001320
Hydronephrosis		0000126
Peripheral neuropathy		0009830
Retinal coloboma	Hole in the back of the eye	0000480
Seizure		0001250

Showing of 40 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

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Diagnosis 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 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

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) lists the subtypes and associated genes for Micro syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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 Micro syndrome. Click on the link to view a sample search on this topic.

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