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Disease Profile

Primrose 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

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.

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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)

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome; Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. A variety of neurological signs such as brain calcifications, autism, and behavioral abnormalities have been reported in some cases. Additional features such as diabetes, sparse body hair, and muscle wasting become apparent in adulthood. Research has found that some cases of Primrose syndrome are caused by a mutation in the ZBTB20 gene . Most cases have been sporadic.[1][2]

Symptoms

Signs and symptoms of primrose syndrome vary from person to person and may include:[1][3][4]

  • Characteristic facial features (deep set eyes, small lower jaw, drooping of the eyelid) and a large head (macrocephaly)
  • Autism, behavioral abnormalities, and intellectual disability
  • Neurological symptoms including brain calcifications, partial or complete absence of the structure that connects the two hemispheres of the brain (agenesis of the corpus callosum) muscle wasting, and problems with coordination (ataxia)
  • Cataracts
  • Calcification (hardening) of the outer ear, recurrent ear infections, and hearing loss
  • Sparse body hair 
  • Torus palatinus (a hard bony growth in the roof of the mouth) 
  • Diabetes
  • Fluid filled lesions (cysts) in the bones

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 palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth

[ more ]

0000174
Anemia
Low number of red blood cells or hemoglobin
0001903
Bone cyst
Bone cysts
0012062
Calcification of the auricular cartilage
0005103
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hip contracture
0003273
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypogonadism
Decreased activity of gonads
0000135
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Irregular vertebral endplates
0003301
Kyphosis
Hunched back
Round back

[ more ]

0002808
Macrotia
Large ears
0000400
Myopathy
Muscle tissue disease
0003198
Osteolysis
Breakdown of bone
0002797
Posterior scalloping of vertebral bodies
0005121
Scoliosis
0002650
30%-79% of people have these symptoms
Anonychia
Absent nails
Aplastic nails

[ more ]

0001798
Bilateral cryptorchidism
0008689
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Gynecomastia
Enlarged male breast
0000771
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow iliac wings
0002868
Pectus excavatum
Funnel chest
0000767
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Synophrys
Monobrow
Unibrow

[ more ]

0000664
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Autism
0000717
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Congenital hypothyroidism
Underactive thyroid gland from birth
0000851
Hypergonadotropic hypogonadism
0000815
Restlessness
0000711
Self-injurious behavior
Self-injurious behaviour
0100716
Percent of people who have these symptoms is not available through HPO
Absent axillary hair
0002221
Absent facial hair
0002550
Autosomal dominant inheritance
0000006
Basilar impression
0005758
Brachycephaly
Short and broad skull
0000248
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Diabetes mellitus
0000819
Distal amyotrophy
Distal muscle wasting
0003693
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Dystrophic fingernails
Poor fingernail formation
0008391
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Generalized osteoporosis
0040160
Genu valgum
Knock knees
0002857
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum

Cause

Primrose syndrome is thought to be caused by a mutation in the ZBTB20 gene . Most cases have been sporadic. However, affected individuals have a 50% risk for passing the mutation to each of their offspring.[1][4]

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 Primrose syndrome. Click on the link to view a sample search on this topic.

References

  1. Mattioli, Francesca, et al.. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. American Journal of Medical Genetics. June, 2016; 170(6):1626-1629. https://www.ncbi.nlm.nih.gov/pubmed/?term=27061120.
  2. Additional features of unique Primrose syndrome phenotype. American Journal of Medical Genetics. June, 2011; 155A (6):1379-1383. https://www.ncbi.nlm.nih.gov/pubmed/?term=21567911.
  3. Battisti C, Dotti MT, Cerase A, Rufa A, Sicurelli F, Scarpini C, Federico A. The Primerose syndrome with progressive neurological involvement and cerebral calcification. J Neurol. 2002;
  4. Primrose Syndrome. Online Mendelian Inheritance in Man (OMIM). August 8, 2016; https://www.omim.org/entry/259050.

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