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 eyelashes||90%|
|Abnormality of the metacarpal bones||90%|
|Delayed skeletal maturation||90%|
|Low anterior hairline||90%|
|Low-set, posteriorly rotated ears||90%|
|Reduced number of teeth||90%|
|Sparse lateral eyebrow||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormal hair quantity||50%|
|Abnormal nasal morphology||50%|
|Abnormality of the philtrum||50%|
|Hypoplasia of the zygomatic bone||50%|
|Increased number of teeth||50%|
|Abnormality of the palate||7.5%|
|Spina bifida occulta||7.5%|
|Abnormality of the vertebrae||-|
|Aplasia cutis congenita||-|
|Cleft upper lip||-|
|Cutaneous finger syndactyly||-|
|Hypoplasia of the odontoid process||-|
|Short 4th metacarpal||-|
|Spina bifida occulta at S1||-|
|Unilateral cleft lip||-|
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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