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Disease Profile
Coffin-Siris 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.
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Age of onset
Neonatal
ICD-10
Q87.1
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)
Fifth digit syndrome; Intellectual disability with absent fifth fingernail and terminal phalanx
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Coffin-Siris
Symptoms
The signs and symptoms of Coffin-Siris
- Mild to severe
intellectual disability - Mild to severe speech delay
- Mild to severe delay in motor skills, such as sitting and walking
- Underdeveloped fingertips or toes
- Missing “pinky” fingernails or toenails
- Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge
- Extra hair growth on the face and body
- Sparse scalp hair
Other symptoms that have been described in infants and children with Coffin-Siris syndrome include:[2]
- Small head size
- Frequent respiratory infections in infancy
- Feeding difficulty in infancy
- Failure to thrive
-
Short stature - Low muscle tone
- Loose joints
- Eye abnormalities
- Heart abnormalities
- Brain abnormalities
- Kidney abnormalities
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 | |||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 | |
Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
Absent/small outermost bone of little finger
Absent/small outermost bone of pinkie finger
Absent/small outermost bone of pinky finger
Absent/underdeveloped outermost bone of pinky finger
[ more ] |
0009239 | |
Coarse facial features |
Coarse facial appearance
|
0000280 | |
Feeding difficulties in infancy | 0008872 | ||
Generalized hirsutism |
Excessive hairiness over body
|
0002230 | |
Global |
0001263 | ||
Hypoplastic fifth fingernail |
Underdeveloped fifth fingernail
Underdeveloped fingernail of little finger
Underdeveloped fingernail of pinkie finger
Underdeveloped fingernail of pinky finger
[ more ] |
0008398 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 | |
Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ] |
0002217 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 | |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
30%-79% of people have these symptoms | |||
Abnormality of cardiovascular system morphology | 0030680 | ||
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 | |
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ] |
0006498 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Dandy-Walker malformation | 0001305 | ||
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 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 | |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
0002650 | |||
0001250 | |||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 | |
5%-29% of people have these symptoms | |||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 | |
Abnormality of the intervertebral disk | 0005108 | ||
Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
Absent/small outermost little toe bone
Absent/small outermost pinkie toe bone
Absent/small outermost pinky toe bone
Absent/underdeveloped outermost pinky toe bone
[ more ] |
0100371 | |
Bilateral single transverse palmar creases | 0007598 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Cleft roof of mouth
|
0000175 | ||
0000776 | |||
Coxa valga | 0002673 | ||
Cutis marmorata | 0000965 | ||
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Hydronephrosis |
Cause Coffin-Siris
Coffin-Siris syndrome is an In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown.[2] Diagnosis Diagnosis of Coffin-Siris
TreatmentPeople with Coffin-Siris Related diseasesRelated 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.
OrganizationsSupport 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 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. Where to Start
In-Depth Information
References
Rare Immunology News |