Rare Infectious Disease News
Advertisement
Disease Profile
Microbrachycephaly ptosis cleft lip
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 2511
Symptoms
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 thumb morphology |
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ] |
0001172 |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ] |
0003172 |
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Bilateral single transverse palmar creases | 0007598 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Delayed cranial suture closure | 0000270 | |
Flat occiput | 0005469 | |
Global |
0001263 | |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large fontanelles |
Wide fontanelles
|
0000239 |
Large iliac wings | 0008818 | |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 |
Pectus excavatum |
Funnel chest
|
0000767 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Shagreen patch | 0009721 | |
Short palm | 0004279 | |
Specific learning disability | 0001328 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
Unilateral |
One sided cleft upper lip
|
0100333 |
30%-79% of people have these symptoms | ||
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Learn more
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.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.