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 | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Agenesis of |
0001274 | |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| 0002353 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Global |
0001263 | |
| Horizontal eyebrow |
Flat eyebrow
Straight eyebrow
[ more ]
|
0011228 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Long philtrum | 0000343 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Poor speech | 0002465 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Ventriculomegaly | 0002119 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 30%-79% of people have these symptoms | ||
| 0000717 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Constipation | 0002019 | |
| Delayed cranial suture closure | 0000270 | |
| 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 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Feeding difficulties in infancy | 0008872 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ]
|
0008499 |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Narrow mouth |
Small mouth
|
0000160 |
| 0001250 | ||
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 5%-29% of people have these symptoms | ||
| 11 pairs of ribs | 0000878 | |
| Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ]
|
0008066 |
| Abnormal cardiac septum morphology | 0001671 | |
| Abnormal heart valve morphology | 0001654 | |
| Abnormal intestine morphology |
Abnormality of the intestine
|
0002242 |
| Abnormality of female external genitalia |
Abnormal female external genitalia
|
0000055 |
| Abnormality of the anus | 0004378 | |
| Abnormality of the neck | 0000464 | |
| Abnormality of the spleen | 0001743 | |
| Annular pancreas | 0001734 | |
| Aortic arch aneurysm | 0005113 | |
| Bifid ribs |
Cleft ribs
Split ribs
[ more ]
|
0000892 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cranial nerve paralysis | 0006824 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| Foot |
Duplication of bones of the toes
|
0001829 |
| Frontal bossing | 0002007 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| Hip dysplasia | 0001385 | |
| Hydronephrosis | 0000126 | |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Hypospadias | 0000047 | |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
| Macule |
Flat, discolored area of skin
|
0012733 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Obesity |
Having too much body fat
|
0001513 |
| Ocular albinism |
Absent pigmentation in the eye
|
0001107 |
| Optic atrophy | 0000648 | |
| Patent ductus arteriosus | 0001643 | |
| Polyphagia |
Voracious appetite
|
0002591 |
| Pyloric stenosis | 0002021 | |
| Renal cyst |
Kidney cyst
|
0000107 |
| Rib fusion |
Fused ribs
|
0000902 |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
| Telangiectasia | 0001009 | |
| Tetralogy of Fallot | 0001636 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 1%-4% of people have these symptoms | ||
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| Asymmetry of the ears |
Asymmetric ears
|
0010722 |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Ebstein anomaly of the tricuspid valve | 0010316 | |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Short 5th finger |
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger
[ more ]
|
0009237 |
| Thickened helices | 0000391 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal lung lobation | 0002101 | |
| Abnormality of the hairline | 0009553 | |
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| Bifid uvula | 0000193 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Cleft upper lip |
Harelip
|
0000204 |
|
Underactive thyroid gland from birth
|
0000851 | |
| Cranial nerve VI palsy | 0006897 | |
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Delayed |
0002188 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Dilation of lateral ventricles | 0006956 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypsarrhythmia | 0002521 | |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
| Infantile spasms | 0012469 | |
| Leukoencephalopathy | 0002352 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Noncompaction cardiomyopathy | 0012817 | |
| Oppositional defiant disorder | 0010865 | |
| Optic disc pallor | 0000543 | |
| Optic nerve coloboma | 0000588 | |
| Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
| Patent foramen ovale | 0001655 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ]
|
0000742 |
| Sporadic |
No previous family history
|
0003745 |
| Submucous cleft hard palate | 0000176 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes Rett syndrome, Angelman syndrome and Prader-Willi syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
What is the expected life span of a person with this chromosome deletion? I am very concerned about my grandson who has this deletion and lately seems to be sick a lot. He has always had a lot of sickness, but now it seems to be more often. He is 20 years old. See answer
