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 | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Abnormal distal phalanx morphology of finger |
Abnormality of the outermost finger bone
|
0009832 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of retinal pigmentation | 0007703 | |
| Abnormality of the pancreas | 0001732 | |
| Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
| Biconvex vertebral bodies | 0004625 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
|
Disease of the heart muscle
|
0001638 | |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Diaphyseal thickening |
Thickening of shaft or central part of long bones
|
0005019 |
| 0002353 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ]
|
0008499 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Large face |
Big face
|
0100729 |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Metaphyseal chondrodysplasia | 0005871 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| 0002650 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| Short palm | 0004279 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse hair | 0008070 | |
| Spinal dysraphism | 0010301 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
| Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 30%-79% of people have these symptoms | ||
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
| 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 |
| Flaring of lower rib cage | 0006589 | |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Mucopolysacchariduria | 0008155 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Reduced tendon reflexes | 0001315 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of |
0003220 | |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ]
|
0008056 |
| Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Decreased circulating |
0004313 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Heart block | 0012722 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypoplasia of the odontoid process | 0003311 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Lymphoma |
Cancer of lymphatic system
|
0002665 |
| Macrotia |
Large ears
|
0000400 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| Small hand |
Disproportionately small hands
|
0200055 |
| 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 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
| Absent pubertal growth spurt | 0031087 | |
| 0000007 | ||
| Cellular |
0005374 | |
| 0004810 | ||
| Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
| Fair hair |
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
[ more ]
|
0002286 |
| Femoral bowing |
Bowed thighbone
|
0002980 |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Impaired |
0003347 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
| Macrocytic anemia | 0001972 | |
| Metaphyseal cupping | 0003021 | |
| Metaphyseal dysplasia | 0100255 | |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Narrow vertebral interpedicular distance | 0008450 | |
| Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
|
Skin tumors
Tumor of the skin
[ more ]
|
0008069 | |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Sparse facial hair | 0007464 | |
| 0005360 | ||
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
|
|---|
|
The differential diagnosis should include other forms of short-limb dwarfism.
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.
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.
