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 calcium-phosphate regulating |
0100530 | |
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the intervertebral disk | 0005108 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormality of the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ]
|
0003172 |
Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
Alopecia |
Hair loss
|
0001596 |
Aplasia/hypoplasia of the femur |
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ]
|
0005613 |
Aplastic clavicle |
Absent collarbone
|
0006660 |
Bifid femur |
Notched thighbone
Split thighbone
[ more ]
|
0010443 |
Bilateral single transverse palmar creases | 0007598 | |
Short fingers or toes
|
0001156 | |
Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
Bulbous nose | 0000414 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Dyspnea |
Trouble breathing
|
0002094 |
Epileptic spasm | 0011097 | |
Generalized non-motor (absence) seizure |
Brief seizures with staring spells
|
0002121 |
0000501 | ||
Global |
0001263 | |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Large hands |
large hand
|
0001176 |
Large iliac wings | 0008818 | |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
Loss of eyelashes |
Eyelashes fell out
Missing eyelashes
[ more ]
|
0011457 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Muscle stiffness | 0003552 | |
Osteomalacia |
Softening of the bones
|
0002749 |
Osteopenia | 0000938 | |
0000939 | ||
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Respiratory failure | 0002878 | |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Rickets |
Weak and soft bones
|
0002748 |
Rigidity |
Muscle rigidity
|
0002063 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Short neck |
Decreased length of neck
|
0000470 |
Short palm | 0004279 | |
Sparse hair | 0008070 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Specific learning disability | 0001328 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Thin eyebrow |
Thin eyebrows
|
0045074 |
30%-79% of people have these symptoms | ||
Abnormality of the tragus | 0009912 | |
Bifid uvula | 0000193 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
Submucous cleft hard palate | 0000176 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Absent knee epiphyses |
Absent knee end part
|
0006400 |
Agenesis of cerebellar vermis | 0002335 | |
Agenesis of |
0001274 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
0000007 | ||
Bowed humerus |
Bowed long bone in upper arm
|
0003865 |
Cleft vertebral arch | 0004616 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
Disproportionate short stature | 0003498 | |
Dry skin | 0000958 | |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Enlarged metaphyses |
Enlarged wide portion of a long bone
|
0003051 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Femoral bowing |
Bowed thighbone
|
0002980 |
Gray matter heterotopia | 0002282 | |
Hip contracture | 0003273 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hyperkeratosis | 0000962 | |
Hypoplasia of the frontal lobes |
Underdeveloped frontal lobe
|
0007333 |
Hypoplastic ilia | 0000946 | |
Knee flexion contracture | 0006380 | |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
Long clavicles |
Long collarbone
|
0000890 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Prolonged neonatal |
Prolonged yellowing of skin in newborn
|
0006579 |
Renal cyst |
Kidney cyst
|
0000107 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Seizure | 0001250 | |
Short femur |
Short thighbone
|
0003097 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Shoulder flexion contracture | 0003044 | |
Single transverse palmar crease | 0000954 | |
Small anterior fontanelle | 0000237 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Stillbirth |
Stillborn
|
0003826 |
Tetralogy of Fallot | 0001636 |
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 MOPD type 2 (see this term) and other syndromes associated with primordial dwarfism (such as Seckel syndrome; see this term).
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. Submit a new question
Does the "M" in MOPD stand for microcephaly or Majewski? What is the difference between the types of MOPD in terms of genetics? See answer
Do you have information on MOPD Type I that I could share with a family I know? See answer