National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome


Other Names:
Lundberg syndrome; Polyneuropathy - intellectual deficit - acromicria - premature menopause
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2928

Definition
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2018

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
80%-99% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Decreased nerve conduction velocity 0000762
EMG abnormality 0003457
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Micromelia
Smaller or shorter than typical limbs
0002983
Muscle weakness
Muscular weakness
0001324
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ] 		0008209
Reduced tendon reflexes 0001315
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Truncal obesity 0001956
Ulnar deviation of finger
Finger bends toward pinky
0009465
5%-29% of people have these symptoms
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Furrowed tongue
Grooved tongue
0000221
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Last updated: 7/1/2020

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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