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Disease Profile
Rabson-Mendenhall 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.
Unknown
Age of onset
Infancy
ICD-10
E13
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)
Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities; Mendenhall Syndrome; INSR-related severe syndromic insulin resistance
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases
Summary
Rabson-Mendenhall
RMS is caused by a
Donohue syndrome (leprechaunism) is a more severe form of INSR-related syndromic insulin resistance. Symptoms are similar to those seen in RMS, but are more serious. Most children with Donohue syndrome die before one year of age. Type A insulin resistance syndrome (type A) is a milder form of INSR-related syndromic insulin resistance. People with type A are often not diagnosed until their teens.[1]
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
|
||
---|---|---|---|---|
30%-79% of people have these symptoms | ||||
Darkened and thickened skin
|
0000956 | |||
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 | ||
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 | ||
Dry skin | 0000958 | |||
Enlarged ovaries | 0100879 | |||
Fasting hyperinsulinemia |
High blood insulin levels while fasting
|
0008283 | ||
Fasting |
Low blood sugar when fasting
|
0003162 | ||
Global |
0001263 | |||
Hirsutism |
Excessive hairiness
|
0001007 | ||
Hypertrichosis | 0000998 | |||
Increased C |
0030796 | |||
Increased serum testosterone level | 0030088 | |||
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |||
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | ||
Lichenoid skin lesion | 0031452 | |||
Long penis |
Enlarged penis
|
0000040 | ||
Onychauxis | 0012542 | |||
Postprandial hyperglycemia | 0011998 | |||
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 | ||
Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 | ||
Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ] |
0008850 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |||
Thick hair |
Increased hair density
|
0100874 | ||
5%-29% of people have these symptoms | ||||
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | ||
Disease of the heart muscle
|
0001638 | |||
0007305 | ||||
Coarse facial features |
Coarse facial appearance
|
0000280 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | ||
Diabetic ketoacidosis | 0001953 | |||
Furrowed tongue |
Grooved tongue
|
0000221 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 | ||
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | ||
Hypokalemia |
Low blood potassium levels
|
0002900 | ||
Hypothyroidism |
Underactive thyroid
|
0000821 | ||
Impaired glucose tolerance | 0040270 | |||
Increased pineal volume | 0012686 | |||
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 | ||
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 | ||
Macrotia |
Large ears
|
0000400 | ||
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 | ||
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 | ||
0009830 | ||||
More than five fingers or toes on hands or feet
|
0010442 | |||
Polydipsia |
Extreme thirst
|
0001959 | ||
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 | ||
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 | ||
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 | ||
Retinopathy |
Noninflammatory retina disease
|
0000488 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | ||
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 | ||
Percent of people who have these symptoms is not available through HPO | ||||
0000007 | ||||
Hyperglycemia |
High blood sugar
|
0003074 | ||
Hyperinsulinemia | 0000842
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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. Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
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