Rare Dermatology News

Disease Profile

Progeroid short stature with pigmented nevi

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

Infancy

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ICD-10

-

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.

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)

Mulvihill-Smith syndrome

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

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

Orpha Number: 2959

Definition
Progeriashort stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

Epidemiology
Less than ten cases have been described so far.

Clinical description
Other clinical features include immunodeficiency, high-pitched voice and progressive hearing and visual loss. Motor and intellectual development is normal or slightly impaired.

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
Abnormal muscle tone
0003808
Abnormality of thalamus morphology
0010663
Alopecia
Hair loss
0001596
Band keratopathy
0000585
Bifid uvula
0000193
Bird-like facies
Bird-like facial appearance
0000320
Brachydactyly
Short fingers or toes
0001156
Broad-based gait
Wide based walk
0002136
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Central sleep apnea
0010536
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Decreased serum estradiol
0008214
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels

[ more ]

0040171
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Elevated hepatic transaminase
High liver enzymes
0002910
Fragile teeth
0025124
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
High pitched voice
0001620
Hypergonadotropic hypogonadism
0000815
Hyperpigmented nevi
0007481
Hypodontia
Failure of development of between one and six teeth
0000668
Hypospadias
0000047
Immunodeficiency
Decreased immune function
0002721
Insomnia
Difficulty staying or falling asleep
0100785
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Lack of facial subcutaneous fat
Lack of facial fat below the skin
0005320
Low posterior hairline
Low hairline at back of neck
0002162
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micropenis
Short penis
Small penis

[ more ]

0000054
Multiple joint contractures
0002828
Osteopenia
0000938
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure

[ more ]

0008209
Progeroid facial appearance
Premature aged appearance
0005328
Progressive sensorineural hearing impairment
0000408
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Recurrent viral infections
0004429
Selective tooth agenesis
0001592
Short distal phalanx of finger
Short outermost finger bone
0009882
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Supraventricular arrhythmia
0005115
T lymphocytopenia
Low T cell count
Reduced number of T cells

[ more ]

0005403
5%-29% of people have these symptoms
Episodic vomiting
0002572
Generalized osteoporosis
0040160
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Microcytic anemia
0001935
Motor delay
0001270
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

0002894
Thoracic scoliosis
0002943
Percent of people who have these symptoms is not available through HPO
Abnormal joint morphology
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints

[ more ]

0001367
Allergic conjunctivitis
0007879
Allergic rhinitis
Hay fever
Hayfever

Organizations

Support 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 Supporting this Disease

    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 Progeroid short stature with pigmented nevi. Click on the link to view a sample search on this topic.

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