Orpha Number: 93972
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 | ||
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| 30%-79% of people have these symptoms | ||
| Accessory scrotum |
Extra scrotum
|
0030274 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Sensorineural hearing impairment | 0000407 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Obesity |
Having too much body fat
|
0001513 |
| 1%-4% of people have these symptoms | ||
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of blood and blood-forming |
0001871 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
|
Short fingers or toes
|
0001156 | |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Constipation | 0002019 | |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Drooling |
Dribbling
|
0002307 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Genu valgum |
Knock knees
|
0002857 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplastic philtrum | 0005326 | |
| Hypospadias | 0000047 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 |
| Kyphoscoliosis | 0002751 | |
| Lower limb hypertonia | 0006895 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Optic atrophy | 0000648 | |
| Paroxysmal bursts of laughter | 0000749 | |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ]
|
0010808 |
|
Drooping upper eyelid
|
0000508 | |
| Radial deviation of finger | 0009466 | |
| Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short upper lip |
Decreased height of upper lip
Decreased vertical length of upper lip
Shortening of upper lip
[ more ]
|
0000188 |
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ]
|
0001238 |
| Talipes calcaneovalgus | 0001884 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Tented upper lip vermilion | 0010804 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Triangular nasal tip |
Triangular shaped tip of nose
|
0000451 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ]
|
0010806 |
| Vesicoureteral reflux | 0000076 | |
| Vomiting |
Throwing up
|
0002013 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 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 |
| Widely-spaced maxillary central incisors |
Gap between upper front teeth
Wide gap between upper central incisors
Widely spaced upper incisors
[ more ]
|
0001566 |
| 0001419 | ||
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.
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.
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