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Disease Profile
Xia-Gibbs 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
#N/A
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)
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome; Autosomal dominant intellectual disability 25
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Xia-Gibbs
Xia-Gibbs syndrome is caused by variants (
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 | ||
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| 0001251 | ||
| Delayed ability to walk | 0031936 | |
| Expressive language delay | 0002474 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
| Obstructive sleep apnea | 0002870 | |
| 0001250 | ||
| Upbeat |
0011477 | |
| Upper airway obstruction | 0002781 | |
| 5%-29% of people have these symptoms | ||
| 0000717 | ||
| Cerebral visual impairment | 0100704 | |
| 0001363 | ||
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
| Delayed myelination | 0012448 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| 0002353 | ||
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Laryngomalacia |
Softening of voice box tissue
|
0001601 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Mild myopia | 0025573 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
| Respiratory failure requiring assisted ventilation | 0004887 | |
| Retrocerebellar cyst | 0006951 | |
| 0002650 | ||
| Small earlobe |
Small earlobes
|
0000385 |
| Snoring | 0025267 | |
| Tracheomalacia |
Floppy windpipe
|
0002779 |
| Uplifted earlobe |
Lobe, uplifted
Upturned earlobe
[ more ] |
0009909 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Simplified gyral pattern | 0009879 | |
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
- Visit the following Facebook groups related to Xia-Gibbs syndrome:
Xia-Gibbs Syndrome Community
Xia-Gibbs Syndrome: Parent-to-Parent
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
- Genetics Home Reference (GHR) contains information on Xia-Gibbs syndrome. This website is maintained by the National Library of Medicine.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Xia-Gibbs syndrome. Click on the link to view a sample search on this topic.
References
- Xia F, Bainbridge MN, Tan TY, et al. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. American Journal of Human Genetics. 2014; 94(5):784-789. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067559/.
- AHDC1 gene. Genetics Home Reference. 2018; https://ghr.nlm.nih.gov/gene/AHDC1.
- Yang H, Douglas G, Monaghan KG, et al. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harbor Molecular Case Studies. 2015; 1(1):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850891/.
- Jiang Y, Wangler MF, McGuire AL & cols. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. June, 2018; 176(6):1315-1326. https://www.ncbi.nlm.nih.gov/pubmed/29696776.
- Xia-Gibbs syndrome. OMIM. 2014; https://www.omim.org/entry/615829.