Rare Endocrinology News

Disease Profile

Tetrasomy 9p

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

Antenatal

ICD-10

Q99.8

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)

Chromosome 9p tetrasomy; Tetrasomy of short arm of chromosome 9; Mosaic tetrasomy 9p

Categories

Chromosome Disorders; 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: 3310

Definition
Tetrasomy 9p is a rare autosomal anomaly characterized by preand postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).

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
30%-79% of people have these symptoms
Abnormality of earlobe
Abnormal earlobe
Abnormality of ear lobe

[ more ]

0000363
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Global developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Large beaked nose
0003683
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Pilomatrixoma
0030434
5%-29% of people have these symptoms
Abnormal chorioretinal morphology
0000532
Abnormal mitral valve morphology
0001633
Abnormal number of permanent teeth
Abnormal number of adult teeth
0011044
Abnormality of the spinal cord
0002143
Absent gallbladder
0011467
Aplasia/Hypoplasia of the clavicles
Absent/small collarbone
Absent/underdeveloped collarbone

[ more ]

0006710
Arthritis
Joint inflammation
0001369
Bifid uvula
0000193
Bilateral single transverse palmar creases
0007598
Biliary atresia
0005912
Bulbous nose
0000414
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dandy-Walker malformation
0001305
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Exotropia
Outward facing eye ball
0000577
Fatigue
Tired
Tiredness

[ more ]

0012378
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Glue ear
0040262
Hemihypertrophy
Asymmetric overgrowth
0001528
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis
0000126
Hypoplastic scapulae
Small shoulder blade
0000882
Infertility
0000789
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Large fontanelles
Wide fontanelles
0000239
Median cleft lip and palate
Central cleft lip and palate
Midline cleft lip/palate

[ more ]

0008501
Missing ribs
Absent ribs
Decreased rib number

[ more ]

0000921
Multiple renal cysts
Multiple kidney cysts
0005562
Myositis
Muscle inflammation
0100614
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oligospermia
Low sperm count
0000798
Pachygyria
Fewer and broader ridges in brain
0001302
Pericarditis
Swelling or irritation of membrane around heart
0001701
Polymicrogyria
More grooves in brain
0002126
Raynaud phenomenon
0030880
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Renal dysplasia
0000110
Sacral dimple
Spinal dimple
0000960
Seizure
0001250
Short neck
Decreased length of neck
0000470
Small hand

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

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about tetrasomy 9p.

      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 Tetrasomy 9p. Click on the link to view a sample search on this topic.

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