Nakajo syndrome

Title

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Other Names:

Nodular erythema digital changes

Categories:

Congenital and Genetic Diseases

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Acanthosis nigricans	Darkened and thickened skin	0000956
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Arthralgia	Joint pain	0002829
Basal ganglia calcification		0002135
Bone pain		0002653
Childhood onset	Symptoms begin in childhood	0011463
Chronic constipation	Infrequent bowel movements	0012450
Conjunctivitis	Pink eye	0000509
Death in adolescence		0011421
Decreased HDL cholesterol concentration	Decreased circulating high-density lipoprotein cholesterol Decreased HDL cholesterol Low HDL-cholesterol [ more ]	0003233
Elevated C-reactive protein level		0011227
Elevated erythrocyte sedimentation rate	High ESR	0003565
Elevated hepatic transaminase	High liver enzymes	0002910
Epididymitis		0000031
Episcleritis	Inflammation of the thin layer on top of the white part of eye	0100534
Erythema nodosum		0012219
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Finger swelling		0025131
Flexion contracture of finger		0012785
Gynecomastia	Enlarged male breast	0000771
Hallux valgus	Bunion	0001822
Hepatomegaly	Enlarged liver	0002240
Hypertrichosis		0000998
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Hypoplastic scapulae	Small shoulder blade	0000882
Increased circulating IgA level		0003261
Increased circulating IgG level		0003237
Increased circulating interleukin 6		0030783
Increased circulating interleukin 8		0033178
Increased serum interferon-gamma level		0030356
Increased thyroid-stimulating hormone level		0002925
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Irregular menstruation	Menstrual irregularity	0000858
Lipodystrophy	Inability to make and keep healthy fat tissue	0009125
Lymphadenopathy	Swollen lymph nodes	0002716
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Microcytic anemia		0001935
Parotitis		0011850
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Progeroid facial appearance	Premature aged appearance	0005328
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Protuberant abdomen	Belly sticks out Extended belly [ more ]	0001538
Punctate opacification of the cornea		0007856
Recurrent fever	Episodic fever Increased body temperature, episodic Intermittent fever [ more ]	0001954
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent sinusitis		0011108
Reduced tendon reflexes		0001315
Seizure		0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Skin plaque		0200035
Sparse axillary hair	Limited armpit hair Little underarm hair [ more ]	0002215
Splenomegaly	Increased spleen size	0001744
Thrombocytopenia	Low platelet count	0001873
Percent of people who have these symptoms is not available through HPO
Adipose tissue loss	Loss of fat tissue	0008887
Autosomal recessive inheritance		0000007
Camptodactyly of finger	Permanent flexion of the finger	0100490
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Clubbing of fingers	Clubbed fingers Clubbing (hands) Finger clubbing [ more ]	0100759
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
Erythema		0010783
Flexion contracture of toe		0005830
Growth abnormality	Abnormal growth Growth issue [ more ]	0001507
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Impaired glucose tolerance		0040270
Long fingers		0100807
Loss of facial adipose tissue	Decreased amount of facial fat Loss of facial fat [ more ]	0000292
Macrotia	Large ears	0000400
Muscle weakness	Muscular weakness	0001324
Panniculitis	Inflammation of fat tissue	0012490
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Stiff skin		0030053
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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 Nakajo syndrome. Click on the link to view a sample search on this topic.

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