The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include:[1]
Other symptoms that have been described in infants and children with Coffin-Siris syndrome include:[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the eyelashes | 90% |
| Abnormality of the teeth | 90% |
| Anonychia | 90% |
| Coarse facial features | 90% |
| Cognitive impairment | 90% |
| Feeding difficulties in infancy | 90% |
| Hypertrichosis | 90% |
| Microcephaly | 90% |
| Muscular hypotonia | 90% |
| Short distal phalanx of finger | 90% |
| Short stature | 90% |
| Slow-growing hair | 90% |
| Thick eyebrow | 90% |
| Thick lower lip vermilion | 90% |
| Aplasia/Hypoplasia of the cerebellum | 50% |
| Cryptorchidism | 50% |
| Dandy-Walker malformation | 50% |
| Depressed nasal bridge | 50% |
| Depressed nasal ridge | 50% |
| Elbow dislocation | 50% |
| Hearing impairment | 50% |
| Intrauterine growth retardation | 50% |
| Joint hypermobility | 50% |
| Nystagmus | 50% |
| Patellar aplasia | 50% |
| Recurrent respiratory infections | 50% |
| Scoliosis | 50% |
| Seizures | 50% |
| Strabismus | 50% |
| Wide mouth | 50% |
| Abnormal localization of kidney | 7.5% |
| Abnormality of the clavicle | 7.5% |
| Abnormality of the hip bone | 7.5% |
| Abnormality of the intervertebral disk | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Aplastic/hypoplastic toenail | 7.5% |
| Cataract | 7.5% |
| Congenital diaphragmatic hernia | 7.5% |
| Cutis marmorata | 7.5% |
| Epicanthus | 7.5% |
| Kyphosis | 7.5% |
| Lacrimation abnormality | 7.5% |
| Ptosis | 7.5% |
| Renal hypoplasia/aplasia | 7.5% |
| Short philtrum | 7.5% |
| Single transverse palmar crease | 7.5% |
| Spina bifida occulta | 7.5% |
| Aggressive behavior | - |
| Aplasia of the uterus | - |
| Aplasia/Hypoplasia of the patella | - |
| Astigmatism | - |
| Atria septal defect | - |
| Autistic behavior | - |
| Autosomal recessive inheritance | - |
| Broad nasal tip | - |
| Choanal atresia | - |
| Coxa valga | - |
| Delayed eruption of teeth | - |
| Delayed skeletal maturation | - |
| Dislocated radial head | - |
| Duodenal ulcer | - |
| Ectopic kidney | - |
| Facial hypertrichosis | - |
| Gastric ulcer | - |
| Hemangioma | - |
| High palate | - |
| Hydronephrosis | - |
| Hypoplasia of the corpus callosum | - |
| Hypoplastic fifth fingernail | - |
| Hypospadias | - |
| Hypotelorism | - |
| Inguinal hernia | - |
| Intellectual disability | - |
| Intestinal malrotation | - |
| Intussusception | - |
| Joint laxity | - |
| Long eyelashes | - |
| Lumbosacral hirsutism | - |
| Myopia | - |
| Partial agenesis of the corpus callosum | - |
| Patent ductus arteriosus | - |
| Postnatal growth retardation | - |
| Preauricular skin tag | - |
| Renal hypoplasia | - |
| Sacral dimple | - |
| Severe expressive language delay | - |
| Short distal phalanx of the 5th finger | - |
| Short distal phalanx of the 5th toe | - |
| Short sternum | - |
| Sparse scalp hair | - |
| Tetralogy of Fallot | - |
| Umbilical hernia | - |
| Ventricular septal defect | - |
People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists.[2]
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