The signs and symptoms of Coffin-Siris
Other symptoms that have been described in infants and children with Coffin-Siris syndrome include:[2]
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 | ||
Abnormality of the clavicle |
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 | 0000126 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypoplastic fifth toenail |
Small fifth toenail
Underdeveloped fifth toenail
[ more ]
|
0011937 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Partial agenesis of the corpus callosum | 0001338 | |
Drooping upper eyelid
|
0000508 | |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
Short philtrum | 0000322 | |
Spina bifida occulta | 0003298 | |
1%-4% of people have these symptoms | ||
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
Aplasia of the uterus |
Absent uterus
uterus absent
[ more ]
|
0000151 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
Autistic behavior | 0000729 | |
0000006 | ||
0000007 | ||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Dislocated radial head | 0003083 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Duodenal ulcer | 0002588 | |
Facial hypertrichosis |
Increased facial hair growth
|
0002219 |
Gastric ulcer |
Stomach ulcer
|
0002592 |
Hemangioma |
Strawberry mark
|
0001028 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
High pitched voice | 0001620 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Hypospadias | 0000047 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
Inguinal hernia | 0000023 | |
Intestinal malrotation | 0002566 | |
Intussusception | 0002576 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Lumbosacral hirsutism | 0009747 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Patent ductus arteriosus | 0001643 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Preauricular skin tag | 0000384 | |
Prominent fingertip pads |
Prominent finger pads
|
0001212 |
Prominent interphalangeal joints |
Prominent hinge joints
|
0006237 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Sacral dimple |
Spinal dimple
|
0000960 |
Severe expressive language delay | 0006863 | |
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Short distal phalanx of the 5th finger |
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone
[ more ]
|
0004227 |
Short distal phalanx of the 5th toe |
Short outermost bone of the little toe
Short outermost bone of the pinkie toe
Short outermost bone of the pinky toe
[ more ]
|
0100391 |
Short sternum | 0000879 | |
Single transverse palmar crease | 0000954 | |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Tetralogy of Fallot | 0001636 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Umbilical hernia | 0001537 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
People with Coffin-Siris
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related 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.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Nicolaides-Baraitser syndrome, brachymorphism-onychodysplasia-dysphalangism, DOOR syndrome, hyperphosphatasia-intellectual deficiency syndrome, Borjeson-Forssman-Lehmann syndrome, Wiedemann-Steiner syndrome, Rubinstein-Taybi syndrome and Cornelia de Lange syndrome. Fetal hydantoin syndrome may mimick Coffin-Siris syndrome.
Visit the
Orphanet disease page
for more information.
|
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