Abruzzo-Erickson syndrome is characterized by an opening in the roof of the mouth (cleft palate), a gap or split in the structures that make up the eye (ocular coloboma), abnormal location for the opening of the urethra on the penis (hypospadius), mixed conductive-sensorineural hearing loss, short stature, and an abnormal fusion of the bones of the forearm (radioulnar synostosis). Additional features may include:
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)|
|Displacement of the external urethral meatus||90%|
|Hypoplasia of the zygomatic bone||90%|
|Sensorineural hearing impairment||50%|
|Ulnar deviation of finger||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of dental morphology||7.5%|
|Atria septal defect||7.5%|
|Conductive hearing impairment||7.5%|
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What parts of the body does Abruzzo-Erickson syndrome effect? See answer