Rare Ophthalmology News

Disease Profile

Male pseudohermaphroditism intellectual disability syndrome, Verloes type

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

Q56.3

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Verloes syndrome; Disorder of sex development intellectual disability; Verloes-Gillerot-Fryns syndrome;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

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

Orpha Number: 2983

Definition
Verloes-Gillerot-Fryns syndrome is a rare association of malformations.

Epidemiology
It has been described in only three patients, including two sibs.

Clinical description
The first patient had profound intellectual deficit. His general aspect clearly resembled that of individuals with Borjeson-Forssman-Lehmann syndrome, a rare X-linked recessive disorder. Clinical features included short stature, coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired and had microphthalmia and large ears, and short stature. She had a complete uterus with tubae and a single intraabdominal gonad with testicular organization at birth. These were removed during infancy. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features resembling those of the Borjeson-Forssman-Lehmann syndrome and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity.

Diagnostic methods
All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.

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
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Genu valgum
Knock knees
0002857
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of penis
Underdeveloped penis
0008736
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphosis
Hunched back
Round back

[ more ]

0002808
Low posterior hairline
Low hairline at back of neck
0002162
Low-set, posteriorly rotated ears
0000368
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Severe sensorineural hearing impairment
0008625
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short philtrum
0000322
Short thorax
Shorter than typical length between neck and abdomen
0010306
Spina bifida occulta
0003298
Synophrys
Monobrow
Unibrow

[ more ]

0000664
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Autosomal recessive inheritance
0000007
Bilateral microphthalmos
Abnormally small eyeball on both sides
0007633
Cervical spina bifida
0005857
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Coarse facial features
Coarse facial appearance
0000280
Male pseudohermaphroditism
0000037
Narrow palpebral fissure
Small opening between the eyelids
0045025
Obesity
Having too much body fat
0001513
Postnatal growth retardation
Growth delay as children
0008897

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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) 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 Male pseudohermaphroditism intellectual disability syndrome, Verloes type. Click on the link to view a sample search on this topic.