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

48,XYYY

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

Orpha Number: 99329

Definition
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2017

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
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Abnormal renal morphology
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ] 		0012210
Acne 0001061
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Asthma 0002099
Azoospermia
Absent sperm in semen
0000027
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
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Dislocated radial head 0003083
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Global developmental delay 0001263
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Impulsivity
Impulsive
0100710
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Irregularly spaced teeth
Irregular dental spacing
Variability of spacing between teeth
[ more ] 		0006316
Long philtrum 0000343
Low frustration tolerance 0000744
Male hypogonadism
Decreased function of male gonad
0000026
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Primary gonadal insufficiency 0008193
Radioulnar synostosis
Fused forearm bones
0002974
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Short neck
Decreased length of neck
0000470
Tall stature
Increased body height
0000098
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] 		0000179
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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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