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Disease Profile

Smith-Fineman-Myers syndrome

Prevalence
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.

Unknown

Age of onset

-

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

SFMS

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93974

Definition
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).

Epidemiology
Prevalence is unknown. Since its initial description in 1980, SFMS has been described in males from 11 families and in one isolated case.

Clinical description
SFMS is characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation, and behavioural problems.

Etiology
In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family with SFMS has been mapped to a 19.8 Mb interval on Xq25.

Genetic counseling
Transmission is X-linked recessive.

Visit the Orphanet disease page for more resources.

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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
30%-79% of people have these symptoms
Absent mastoid
0012761
Bilateral ptosis
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 palate
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 hypotonia
Decreased muscle tone in infant
0008947
Metatarsus adductus
Front half of foot turns inward
0001840
Micrognathia
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
Seizure
0001250
Severe global developmental delay
0011344
Short stature
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 scoliosis
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 tissues
0001871
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Brachydactyly
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 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Smith-Fineman-Myers syndrome. Click on the link to view a sample search on this topic.

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