Complications may include sleep apnea, frequent respiratory infections, strabismus, club foot, cleft palate, glaucoma, and cryptorchidism (undescended testicle).
There are two forms of Debuquois syndrome that have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies (accessory ossification center situated away (distal) from the second bone of the hand (metacarpal), bifid distal phalanx (the bone of the tip of the finger is divided in two parts), or thumb with delta-shaped phalanx). A variant form of the syndrome, Kim variant, has been described in 7 patients from Korea and Japan, and is characterized by short stature, articular and minor facial anomalies, together with hand anomalies, including short metacarpals (bones of the hand) and fingers with long bones (elongated phalanges) with advanced carpal bone age.
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 femur||90%|
|Abnormality of the metaphyses||90%|
|Accelerated skeletal maturation||90%|
|Aplasia/Hypoplasia of the abdominal wall musculature||90%|
|Camptodactyly of finger||90%|
|Depressed nasal bridge||90%|
|Abnormal hair quantity||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the hip bone||50%|
|Clinodactyly of the 5th finger||50%|
|Low-set, posteriorly rotated ears||50%|
|Ventricular septal defect||50%|
|Single transverse palmar crease||5%|
|Advanced ossification of carpal bones||-|
|Advanced tarsal ossification||-|
|Autosomal recessive inheritance||-|
|Bifid distal phalanx of the thumb||-|
|Broad femoral neck||-|
|Broad first metatarsal||-|
|Disproportionate short-limb short stature||-|
|Flat acetabular roof||-|
|Medial deviation of the foot||-|
|Partial duplication of the distal phalanx of the hallux||-|
|Proximal fibular overgrowth||-|
|Severe short stature||-|
|Short 1st metacarpal||-|
|Short femoral neck||-|
|Short long bone||-|
|Short phalanx of finger||-|
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.
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.
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I have a 12-year-old granddaughter who has Desbuquois syndrome. Can you provide some information to help me understand this condition? See answer