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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Bell-shaped thorax | 0001591 | |
| Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
|
Short fingers or toes
|
0001156 | |
| Broad metacarpals |
Wide long bones of hand
|
0001230 |
| Broad phalanx |
Wide digital bones
|
0006009 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Dumbbell-shaped femur |
Dumbbell-shaped thighbone
|
0006375 |
| Equinovarus deformity | 0008110 | |
| Excessive femoral anteversion | 0012427 | |
| Genu valgum |
Knock knees
|
0002857 |
| Hitchhiker thumb | 0001234 | |
| Laryngeal cartilage malformation | 0008752 | |
| Laryngeal stenosis | 0001602 | |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Rhizomelic arm shortening | 0004991 | |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
| Short femur |
Short thighbone
|
0003097 |
| Short lower limbs |
Short legs
|
0006385 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short ribs | 0000773 | |
| Thoracolumbar kyphoscoliosis | 0003423 | |
| Tibial torsion | 0100694 | |
| Tracheobronchomalacia | 0002786 | |
| Ulnar deviation of the hand or of fingers of the hand | 0001193 | |
| Upper limb undergrowth |
Short arms
Shortening of the arms
[ more ]
|
0009824 |
| 5%-29% of people have these symptoms | ||
| Bilateral |
Right and left cleft palate
|
0100337 |
| Cervical kyphosis |
Rounded neck
|
0002947 |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Facial midline hemangioma | 0004664 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplastic cervical vertebrae | 0008434 | |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ]
|
0012810 |
| 1%-4% of people have these symptoms | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Increased intervertebral space | 0030320 | |
| Stillbirth |
Stillborn
|
0003826 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
| 0000007 | ||
| Bifid humerus |
Notched long bone in upper arm
|
0003864 |
| Cleft palate |
Cleft roof of mouth
|
0000175 |
| Coronal cleft vertebrae | 0003417 | |
| 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 |
| Flat acetabular roof | 0003180 | |
| Horizontal sacrum | 0003440 | |
| Lacunar halos around chondrocytes | 0032930 | |
| Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 0002650 | ||
| Short greater sciatic notch | 0003185 | |
| Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thoracic hypoplasia |
Small chest
Small thorax
[ more ]
|
0005257 |
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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Can you please help me get information on atelosteogenesis type 2? I have just found out that I have this. See answer
