Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene.
In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.
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 dental morphology||90%|
|Clinodactyly of the 5th finger||90%|
|Downturned corners of mouth||90%|
|Hypoplasia of penis||90%|
|Short distal phalanx of finger||90%|
|Vertebral segmentation defect||90%|
|Depressed nasal bridge||78%|
|Abnormality of female external genitalia||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the ribs||50%|
|Abnormality of thumb phalanx||50%|
|Long palpebral fissure||50%|
|Low-set, posteriorly rotated ears||50%|
|Preaxial foot polydactyly||50%|
|Tented upper lip vermilion||50%|
|Upslanted palpebral fissure||50%|
|Abnormality of the aorta||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the palate||7.5%|
|Abnormality of the pulmonary valve||7.5%|
|Abnormality of the tricuspid valve||7.5%|
|Atria septal defect||7.5%|
|Camptodactyly of finger||7.5%|
|Exaggerated cupid's bow||7.5%|
|Increased number of teeth||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Recurrent respiratory infections||7.5%|
|Reduced number of teeth||7.5%|
|Single transverse palmar crease||7.5%|
|Synostosis of carpal bones||7.5%|
|Tetralogy of Fallot||7.5%|
|Ventricular septal defect||7.5%|
|Aplasia/Hypoplasia involving the metacarpal bones||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Bifid distal phalanx of toe||-|
|Delayed cranial suture closure||-|
|Delayed eruption of permanent teeth||-|
|Delayed eruption of teeth||-|
|Delayed skeletal maturation||-|
|Duplication of the distal phalanx of hand||-|
|Hypoplastic labia majora||-|
|Posteriorly rotated ears||-|
|Radial deviation of finger||-|
|Right ventricular outlet obstruction||-|
|Short hard palate||-|
|Short middle phalanx of the 5th finger||-|
|Wide anterior fontanel||-|
|Wide nasal bridge||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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. 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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I live in a family with Robinow syndrome and am the only child of my parents to not have it. What is the chance that I am a carrier of Robinow syndrome? See answer