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) |
| 2-3 toe syndactyly | - |
| 4-5 toe syndactyly | - |
| Abnormal facial shape | - |
| Absent proximal finger flexion creases | - |
| Alveolar ridge overgrowth | - |
| Ambiguous genitalia, female | - |
| Ambiguous genitalia, male | - |
| Anterior rounding of vertebral bodies | - |
| Autosomal recessive inheritance | - |
| Bell-shaped thorax | - |
| Blepharophimosis | - |
| Camptodactyly | - |
| Clinodactyly of the 5th finger | - |
| Dislocated radial head | - |
| Facial hirsutism | - |
| Fibular aplasia | - |
| Hydranencephaly | - |
| Hydrocephalus | - |
| Hydronephrosis | - |
| Hypoplastic iliac wing | - |
| Hypoplastic ischia | - |
| Hypoplastic pubic bone | - |
| Hypoplastic scapulae | - |
| Joint contracture of the hand | - |
| Long clavicles | - |
| Mesomelia | - |
| Microcornea | - |
| Microglossia | - |
| Microphthalmia | - |
| Microtia, first degree | - |
| Prominent protruding coccyx | - |
| Rhizomelia | - |
| Short palpebral fissure | - |
| Talipes equinovarus | - |
| Toe syndactyly | - |
| Wrist flexion contracture | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I would like information on Cousin syndrome so that I may have an understanding what it is and how to help my friend when needed as I haven't found any helpful information on the internet for this condition.
See answer
