Rare Nephrology News

Disease Profile

Seres-Santamaria Arimany Muniz 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)

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 syndactyly
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
Autosomal dominant inheritance
0000006
Blepharitis
Inflammation of eyelids
0000498
Cleft palate
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.