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Disease Profile
Yunis-Varon syndrome
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 |
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 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
0011451 | ||
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Generalized neonatal |
Generalized low muscle tone in neonate
|
0008935 |
Global |
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 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Neuronal loss in |
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 |
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 | |
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 moreThese 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
References
Rare Neurology News |