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) |
| Cognitive impairment | 90% |
| Decreased body weight | 90% |
| Microcephaly | 90% |
| Short stature | 90% |
| Skeletal muscle atrophy | 90% |
| Abnormal hair quantity | 50% |
| Abnormal nasal morphology | 50% |
| Abnormality of calvarial morphology | 50% |
| Abnormality of the testis | 50% |
| Aplasia/Hypoplasia of the eyebrow | 50% |
| Epicanthus | 50% |
| Hypertonia | 50% |
| Hypoplasia of the zygomatic bone | 50% |
| Long face | 50% |
| Macrotia | 50% |
| Mandibular prognathia | 50% |
| Narrow face | 50% |
| Round ear | 50% |
| Short philtrum | 50% |
| Sprengel anomaly | 50% |
| Triangular face | 50% |
| Upslanted palpebral fissure | 50% |
| Abdominal situs inversus | 7.5% |
| Abnormality of hair texture | 7.5% |
| Abnormality of the thumb | 7.5% |
| Atria septal defect | 7.5% |
| Broad columella | 7.5% |
| Cataract | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Diabetes mellitus | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Hypermetropia | 7.5% |
| Iris coloboma | 7.5% |
| Limitation of joint mobility | 7.5% |
| Macrodontia | 7.5% |
| Narrow mouth | 7.5% |
| Pectus excavatum | 7.5% |
| Seizures | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Strabismus | 7.5% |
| Urogenital fistula | 7.5% |
| Microphthalmia | 5% |
| Renal hypoplasia | 5% |
| Abnormality of the rib cage | - |
| Anal atresia | - |
| Anxiety | - |
| Blindness | - |
| Brachycephaly | - |
| Bulbous nose | - |
| Camptodactyly | - |
| Cerebral atrophy | - |
| Coloboma | - |
| Cupped ear | - |
| Decreased testicular size | - |
| Hearing impairment | - |
| High palate | - |
| Hyperreflexia | - |
| Hypospadias | - |
| Intellectual disability | - |
| Joint contracture of the hand | - |
| Malar flattening | - |
| Narrow foot | - |
| Nasal speech | - |
| Pes cavus | - |
| Phimosis | - |
| Poor suck | - |
| Protruding ear | - |
| Scoliosis | - |
| Situs inversus totalis | - |
| Sparse hair | - |
| Sparse lateral eyebrow | - |
| Spasticity | - |
| Tetralogy of Fallot | - |
| Ventricular septal defect | - |
| Wide nasal bridge | - |
| X-linked recessive inheritance | - |
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.
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.
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
My adult son has Renpenning syndrome. My daughter, who is healthy, gave birth to a son three years ago with the same. We recently learned that this condition is genetic. I would like to learn more about this condition. Are speech delays common in Renpenning syndrome? Do individuals with this condition require less sleep than average? Could my family, which has French Canadian heritage, be related to the Canadian family described by Renpenning in the 1960s? What can we expect? See answer
