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)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of periauricular region||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the toenails||90%|
|Low-set, posteriorly rotated ears||90%|
|Prominent nasal bridge||90%|
|Short distal phalanx of finger||90%|
|Abnormality of the hip bone||50%|
|Advanced eruption of teeth||50%|
|Conductive hearing impairment||50%|
|Sensorineural hearing impairment||50%|
|Spina bifida occulta||50%|
|Ulnar deviation of finger||50%|
|Abnormal auditory evoked potentials||-|
|Abnormality of the vertebral column||-|
|Autosomal recessive inheritance||-|
|Short 1st metacarpal||-|
|Short first metatarsal||-|
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.