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Disease Profile

Yunis-Varon syndrome

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

Q87.8

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.

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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)

Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia; Yunis-Varón syndrome; Yunis Varon syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability.[1][2] Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner.[3][4] Treatment is based on the signs and symptoms present in each person.[1][4]

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
Aplasia of the distal phalanges of the hand
Absent outermost hand bone
0009881
Aplasia of the distal phalanx of the hallux
Absent outermost bone of big toe
0010102
Short proximal phalanx of hallux
Short innermost big toe bone
0010107
30%-79% of people have these symptoms
Abnormal parietal bone morphology
0002696
Abnormal pelvis bone morphology
Abnormal shape of pelvis bone
0040163
Abnormality of dental structure
Abnormality of tooth part
Abnormality of tooth structure

[ more ]

0011061
Abnormality of the occipital bone
0012294
Absent sternal ossification
0006628
Absent thumb
Absent thumbs
0009777
Agenesis of corpus callosum
0001274
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia of the 1st metacarpal
Absent 1st long bone of hand
0010035
Aplasia/hypoplasia of the 1st metatarsal
Absent/small 1st long bone of foot
Absent/underdeveloped 1st long bone of foot

[ more ]

0010067
Aplasia/Hypoplasia of the clavicles
Absent/small collarbone
Absent/underdeveloped collarbone

[ more ]

0006710
Aplasia/Hypoplasia of the nails
Absent/small nails
Absent/underdeveloped nails

[ more ]

0008386
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples

[ more ]

0006709
Arrhinencephaly
0002139
Bilateral external ear deformity
0040111
Bilateral microphthalmos
Abnormally small eyeball on both sides
0007633
Broad secondary alveolar ridge
0000216
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Congenital microcephaly
0011451
Decreased skull ossification
Decreased bone formation of skull
0004331
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Generalized neonatal hypotonia
Generalized low muscle tone in neonate
0008935
Global developmental delay
0001263
High forehead
0000348
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the frontal lobes
Underdeveloped frontal lobe
0007333
Hypospadias
0000047
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Metatarsus adductus
Front half of foot turns inward
0001840
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micropenis
Short penis
Small penis

[ more ]

0000054
Neuronal loss in central nervous system
Loss of brain cells
0002529
Pachygyria
Fewer and broader ridges in brain
0001302
Postnatal growth retardation
Growth delay as children
0008897
Premature loss of primary teeth
Early loss of baby teeth
Premature loss of baby teeth

[ more ]

0006323
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Redundant neck skin
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck

[ more ]

0005989
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838
Sclerocornea
Hardening of skin and connective tissue
0000647
Severe failure to thrive
Severe faltering weight
Severe weight faltering

[ more ]

0001525
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Short middle phalanx of finger
Short middle bone of finger
0005819
Short philtrum
0000322
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short upper lip
Decreased height of upper lip
Decreased vertical length of upper lip
Shortening of upper lip

[ more ]

0000188
Shortening of all distal phalanges of the toes
Shortening of all outermost bone of the toes
0005793
Single transverse palmar crease
0000954
Sparse eyebrow
Sparse eyebrows
0045075
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ 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.

Where to Start

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 Yunis-Varon syndrome. Click on the link to view a sample search on this topic.

References

  1. Varghese P, Collins N, Warner G, Leitch J, Ho E & Crock P. Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. Am J Med Genet A. May, 2014; 164A(5)::1213-7. https://www.ncbi.nlm.nih.gov/pubmed/24610892.
  2. Yunis Varon Syndrome. WebMD. 2015; https://www.webmd.com/children/yunis-varon-syndrome.
  3. Bharadwaj R, Cunningham KM, Zhang K & Lloyd TE. IG4 regulates lysosome membrane homeostasis independent of phosphatase function. Hum Mol Genet. February 15, 2016; 25(4):681-92. https://www.ncbi.nlm.nih.gov/pubmed/26662798.
  4. Campeau PM. Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase. Am J Hum Genet. May 2, 2013; 92(5):781-791. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644641/.

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