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Disease Profile

Splenogonadal fusion limb defects micrognatia

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.8

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)

Splenogonadal fusion limb defects syndrome; SGFLD syndrome

Categories

Congenital and Genetic Diseases; Digestive Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 2063

Definition
Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.

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
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of the knee
0002815
Abnormality of the skin
0000951
Abnormality of the wrist
Abnormalities of the wrists
0003019
Hip dysplasia
0001385
Inguinal hernia
0000023
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
30%-79% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Upper limb asymmetry
Unequal size of arms
0100560
5%-29% of people have these symptoms
Abnormal lung lobation
0002101
Abnormality of cardiovascular system morphology
0030680
Abnormality of neuronal migration
0002269
Anal atresia
Absent anus
0002023
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Congenital diaphragmatic hernia
0000776
Crowded maxillary incisors
Crowded upper front teeth
Crowded upper incisors
Overlapped upper front teeth

[ more ]

0006333
Multiple unerupted teeth
Multiple non-erupting teeth
0006283
Narrow palate
Narrow roof of mouth
0000189
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Reduced number of teeth
Decreased tooth count
0009804
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormality of the genitourinary system
0000119
Autosomal dominant inheritance
0000006
Stillbirth
Stillborn
0003826

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. 
  • 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 Splenogonadal fusion limb defects micrognatia. Click on the link to view a sample search on this topic.