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Disease Profile

Noonan-like syndrome with loose anagen hair

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

Q87.1

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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Categories

Congenital and Genetic Diseases; Heart Diseases; Skin Diseases

Summary

Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays.[1][2][3] The condition is caused by mutations in the SHOC2 gene.[1][4] It follows an autosomal dominant pattern of inheritance.[4]

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
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Low posterior hairline
Low hairline at back of neck
0002162
Low-set, posteriorly rotated ears
0000368
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair

[ more ]

0002209
Webbed neck
Neck webbing
0000465
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Deep philtrum
0002002
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Macrotia
Large ears
0000400
Pectus excavatum
Funnel chest
0000767
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
5%-29% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth

[ more ]

0000174
Abnormality of the elbow
Abnormality of the elbows
0009811
Abnormality of the intervertebral disk
0005108
Brachydactyly
Short fingers or toes
0001156
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Deep palmar crease
Deep palm line
0006191
Eczema
0000964
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic toenails
Underdeveloped toenails
0001800
Ichthyosis
0008064
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes

[ more ]

0000527
Nasal speech
Nasal voice
0001611
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
1%-4% of people have these symptoms
Keratosis pilaris
Chicken skin
0032152
Percent of people who have these symptoms is not available through HPO
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
Autosomal dominant inheritance
0000006
Hyperactivity
More active than typical
0000752
Loose anagen hair
0040169
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Polyhydramnios
High levels of amniotic fluid
0001561
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Short neck
Decreased length of neck
0000470
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Noonan-like syndrome with loose anagen hair. This website is maintained by the National Library of Medicine.

        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 Noonan-like syndrome with loose anagen hair. Click on the link to view a sample search on this topic.

          References

          1. SHOC2. Genetics Home Reference (GHR). January 4, 2016; https://ghr.nlm.nih.gov/gene/SHOC2. Accessed 1/6/2016.
          2. Noonan syndrome-like disorder with loose anagen hair. Orphanet. November 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701. Accessed 1/6/2016.
          3. The “Classic” RASopathy Syndromes. RASopathiesNet. https://rasopathiesnet.org/rasopathies/syndromes/.
          4. Noonan Syndrome-Like Disorder With Loose Anagen Hair; NSLH. Online Mendelian Inheritance in Man (OMIM). July 21, 2014; https://www.omim.org/entry/607721. Accessed 1/6/2016.