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Disease Profile

Snyder-Robinson 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

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

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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)

SRS

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.[1]

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
Kyphoscoliosis
0002751
30%-79% of people have these symptoms
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Cleft palate
Cleft roof of mouth
0000175
Decreased muscle mass
0003199
Disproportionate tall stature
0001519
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
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
Long toe
Increased length of toes
Long toes

[ more ]

0010511
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Nasal speech
Nasal voice
0001611
Osteoporosis
0000939
Slender toe
Narrow toe
0011308
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Unsteady gait
Unsteady walk
0002317
5%-29% of people have these symptoms
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Asymmetry of the ears
Asymmetric ears
0010722
Bulbous nose
0000414
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Difficulty standing
Difficulty in standing
0003698
EEG abnormality
0002353
Focal motor seizure
0011153
Generalized myoclonic seizure
0002123
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypospadias
0000047
Inability to walk
0002540
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Myoclonus
0001336
Narrow mouth
Small mouth
0000160
Patchy hypoand hyperpigmentation
0007509
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Smooth philtrum
0000319
Sparse eyebrow
Sparse eyebrows
0045075
Synophrys
Monobrow
Unibrow

[ more ]

0000664
Testicular atrophy
Testicular degeneration
0000029
Unilateral ptosis
Dropping of one upper eyelid
0007687
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Webbed neck
Neck webbing
0000465
1%-4% of people have these symptoms
Abnormality of the Leydig cells
0010789
Brachycephaly
Short and broad skull
0000248
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cerebral edema
Swelling of brain
0002181
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears

[ more ]

0000378
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
High myopia
Severe near sightedness
Severely close sighted
Severely near sighted

[ more ]

0011003
Intellectual disability, profound
IQ less than 20
0002187
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
Megalencephaly
0001355
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest

Organizations

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.

Organizations Supporting this Disease

    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.

    Where to Start

    • Genetics Home Reference contains information on Snyder-Robinson syndrome. This website is maintained by the National Library of Medicine.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • 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 Snyder-Robinson syndrome. Click on the link to view a sample search on this topic.

        References

        1. Snyder-Robinson syndrome. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome. Accessed 10/7/2015.

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