Rare Nephrology News

Disease Profile

Night blindness-skeletal anomalies-dysmorphism syndrome

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Hunter Thompson Reed syndrome; Hunter-Thompson-Reed syndrome

Categories

Congenital and Genetic Diseases

Summary

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

Orpha Number: 1390

Definition
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).

Epidemiology
It has been described in two brothers.

Clinical description
They also presented myopia and extinguished electroretinograms.

Genetic counseling
Several different modes of inheritance have been reported.

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 electroretinogram
0000512
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth

[ more ]

0000174
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Brachydactyly
Short fingers or toes
0001156
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders

[ more ]

0200021
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Malar flattening
Zygomatic flattening
0000272
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Ptosis
Drooping upper eyelid
0000508
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Synophrys
Monobrow
Unibrow

[ more ]

0000664
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Abnormality of the nose
Nasal abnormality
0000366
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Heterochromia iridis
Different colored eyes
0001100
Hypertonia
0001276
Low-set, posteriorly rotated ears
0000368
Scoliosis
0002650

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.
  • 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 Night blindness-skeletal anomalies-dysmorphism syndrome. Click on the link to view a sample search on this topic.