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Disease Profile
Seres-Santamaria Arimany Muniz 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
#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.
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)
Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects
Categories
Congenital and Genetic Diseases
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ] |
0000970 |
Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ] |
0009755 |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
0000006 | ||
Blepharitis |
Inflammation of eyelids
|
0000498 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Conical tooth |
Cone shaped tooth
Shark tooth
[ more ] |
0000698 |
Conjunctivitis |
Pink eye
|
0000509 |
Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ] |
0001795 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Hypospadias | 0000047 | |
Lacrimal duct atresia |
Unopened tear duct
|
0000564 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Oval face |
Oval facial shape
|
0000300 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Patchy alopecia |
Patchy baldness
|
0002232 |
Patent ductus arteriosus | 0001643 | |
Selective tooth agenesis | 0001592 | |
Sparse body hair | 0002231 | |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Vaginal dryness | 0031088 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 |
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
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Seres-Santamaria Arimany Muniz syndrome. Click on the link to view a sample search on this topic.