Rare Medical News

Disease Profile

Hunter Mcdonald 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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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
Aortic regurgitation
0001659
Autosomal dominant inheritance
0000006
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachycephaly
Short and broad skull
0000248
Camptodactyly
Permanent flexion of the finger or toe
0012385
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cranial nerve paralysis
0006824
Cubitus valgus
Outward turned elbows
0002967
Delayed cranial suture closure
0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
High forehead
0000348
Hypertension
0000822
Hypospadias
0000047
Inguinal hernia
0000023
Joint contracture of the hand
0009473
Large fontanelles
Wide fontanelles
0000239
Long neck
Elongated neck
Increased length of neck

[ more ]

0000472
Malar flattening
Zygomatic flattening
0000272
Meningioma
0002858
Metatarsus adductus
Front half of foot turns inward
0001840
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Mitral regurgitation
0001653
Mitral valve prolapse
0001634
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Narrow forehead
Decreased width of the forehead
0000341
Patent ductus arteriosus
0001643
Pectus carinatum
Pigeon chest
0000768
Premature osteoarthritis
Premature arthritis
0003088
Pseudoepiphyses
0010584
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Sensorineural hearing impairment
0000407
Short palpebral fissure
Short opening between the eyelids
0012745
Short philtrum
0000322
Short stature
Decreased body height
Small stature

[ more ]

0004322
Umbilical hernia
0001537
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582

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.