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Disease Profile

Cabezas 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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

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)

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

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

Orpha Number: 85293

Definition
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.

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
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
Intellectual disability, moderate
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
Scoliosis
0002650
Short foot
Small feet
Short feet

[ more ]

0001773
Short stature
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
Acanthosis nigricans
Darkened and thickened skin
0000956
Biparietal narrowing
0004422
Brachydactyly
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
EEG abnormality
0002353
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Immunodeficiency
Decreased immune function
0002721
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back

[ more ]

0002808
Microcephaly
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
Seizure
0001250
Simplified gyral pattern
0009879
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
1%-4% of peopl

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.

Social Networking Websites

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

  • 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.

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