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Disease Profile
Cabezas 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.
#N/A
Age of onset
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ICD-10
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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)
Intellectual disability, X-linked, syndromic 15; CUL4B-related X-linked intellectual disability; X-linked intellectual disability, Cabezas type;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 85293
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 | ||
Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
Abnormality of earlobe |
Abnormal earlobe
Abnormality of ear lobe
[ more ] |
0000363 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] |
0200021 |
Hyperactivity |
More active than typical
|
0000752 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Inguinal hernia | 0000023 | |
IQ between 34 and 49
|
0002342 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Short neck |
Decreased length of neck
|
0000470 |
Short palm | 0004279 | |
Short philtrum | 0000322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
30%-79% of people have these symptoms | ||
Aggressive behavior |
Aggression
Aggressiveness
Aggressive behaviour
[ more ] |
0000718 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Broad-based gait |
Wide based walk
|
0002136 |
Cachexia |
Wasting syndrome
|
0004326 |
Decreased testicular size |
Small testis
Small testes
[ more ] |
0008734 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Obesity |
Having too much body fat
|
0001513 |
Pes cavus |
High-arched foot
|
0001761 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
0002650 | ||
Short foot |
Small feet
Short feet
[ more ] |
0001773 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thick lower lip vermilion |
Increased volume of lower lip
Prominent lower lip
Plump lower lip
[ more ] |
0000179 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Biparietal narrowing | 0004422 | |
Short fingers or toes
|
0001156 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebellar vermis atrophy | 0006855 | |
Cortical dysplasia | 0002539 | |
Cubitus valgus |
Outward turned elbows
|
0002967 |
0002353 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Decreased activity of gonads
|
0000135 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Decreased immune function
|
0002721 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
0001250 | ||
Simplified gyral pattern | 0009879 | |
Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
1%-4% of peopl
OrganizationsSupport 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. Social Networking Websites
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. In-Depth Information
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