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||
|80%-99% of people have these symptoms|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
Increased width of the forehead
Wide forehead[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Everted lower lip vermilion||
Drooping lower lip
Outward turned lower lip[ more ]
|Hypoplastic pubic bone||0003173|
|Increased vertebral height||0004570|
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
|Rocker bottom foot||
Rocker bottom feet
Rockerbottom feet[ more ]
Winged shoulder blade
Decreased length of neck
Decreased body height
Small stature[ more ]
|Slender long bone||
Long bones slender
Thin long bones[ more ]
Thick eyebrows[ more ]
Face with broad temples and narrow chin
Triangular facial shape[ more ]
|30%-79% of people have these symptoms|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the elbow||
Abnormality of the elbows
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Long, narrow head
Tall and narrow skull[ more ]
Wide rib cage
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Joints move beyond expected range of motion
Smaller or shorter than typical limbs
Small pointed chin
Witch's chin[ more ]
Prominent ears[ more ]
Shorter than typical length between neck and abdomen
|5%-29% of people have these symptoms|
|Abnormality of the cerebral vasculature||
Abnormality of the cerebral blood vessels
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Dislocated hip since birth
Round back[ more ]
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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 diagnoses include Silver-Russell syndrome, Dubowitz syndrome, Mulibrey nanism, and fetal alcohol syndrome (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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