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Disease Profile
Smith-Fineman-Myers syndrome
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.
0
Age of onset
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ICD-10
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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
Other names (AKA)
SFMS
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 93974
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 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
30%-79% of people have these symptoms | ||
Absent mastoid | 0012761 | |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Brachycephaly |
Short and broad skull
|
0000248 |
Bridged palmar crease |
Bridged palm line
|
0011310 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cleft roof of mouth
|
0000175 | |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Dysphasia | 0002357 | |
Exotropia |
Outward facing eye ball
|
0000577 |
Hyperactivity |
More active than typical
|
0000752 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Impairment of activities of daily living | 0031058 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Overjet |
Protrusion of upper teeth in front of lower teeth
|
0011095 |
Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ] |
0006335 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Restlessness | 0000711 | |
0001250 | ||
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Widely-spaced maxillary central incisors |
Gap between upper front teeth
Wide gap between upper central incisors
Widely spaced upper incisors
[ more ] |
0001566 |
5%-29% of people have these symptoms | ||
Asplenia |
Absent spleen
|
0001746 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Excessive femoral anteversion | 0012427 | |
Inguinal hernia | 0000023 | |
Lumbar |
0004626 | |
Obesity |
Having too much body fat
|
0001513 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Spastic diplegia | 0001264 | |
Thoracic scoliosis | 0002943 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of blood and blood-forming |
0001871 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Short fingers or toes
|
0001156 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Constipation | 0002019 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
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 |
Drooling |
Dribbling
|
0002307 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Genu valgum |
Knock knees
|
0002857 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
Learn moreThese 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
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