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 neutrophils||90%|
|Abnormality of the eyelashes||90%|
|Abnormality of the palate||90%|
|Aplasia/Hypoplasia of the tongue||90%|
|Hypoplasia of the zygomatic bone||90%|
|Low anterior hairline||90%|
|Neurological speech impairment||90%|
|Prominent nasal bridge||90%|
|Reduced number of teeth||90%|
|Abnormality of the voice||50%|
|Clinodactyly of the 5th finger||50%|
|Intrauterine growth retardation||50%|
|Prenatal movement abnormality||50%|
|Abnormality of retinal pigmentation||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the mitral valve||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Aplasia/Hypoplasia of the earlobes||7.5%|
|Preauricular skin tag||7.5%|
|Sensorineural hearing impairment||7.5%|
|Ventricular septal defect||7.5%|
|Autosomal recessive inheritance||-|
|Childhood-onset truncal obesity||-|
|Convex nasal ridge||-|
|Feeding difficulties in infancy||-|
|Growth hormone deficiency||-|
|High, narrow palate||-|
|Hypoplasia of the maxilla||-|
|Macrodontia of permanent maxillary central incisor||-|
|Mitral valve prolapse||-|
|Reduced visual acuity||-|
|Single transverse palmar crease||-|
|Small for gestational age||-|
|Thick corpus callosum||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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My two year-old daughter has the symptoms of Cohen syndrome. Could you please provide me with information about how this condition might be treated and what the prognosis is for individuals with it?
I have a 24-month-old niece who has the following symptoms of Cohen syndrome: hypotonia (e.g. unable to stand), congenital cataract, narrow feet with overlapping fingers, slow learning, smaller than normal head size, and aggressive behavior. This is all new to my family and I would like seek your help in learning more about this condition, including what to expect. See answer