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)|
|2-4 toe cutaneous syndactyly||-|
|4-5 finger syndactyly||-|
|Abnormality of dental enamel||-|
|Abnormality of dental morphology||-|
|Autosomal recessive inheritance||-|
|Broad long bones||-|
|Delayed eruption of teeth||-|
|Delayed skeletal maturation||-|
|Downslanted palpebral fissures||-|
|Failure to thrive||-|
|Fifth finger distal phalanx clinodactyly||-|
|Hypoplasia of teeth||-|
|Hypoplasia of the maxilla||-|
|Macrodontia of permanent maxillary central incisor||-|
|Persistent pupillary membrane||-|
|Prominent epicanthal folds||-|
|Short palpebral fissure||-|
|Thin vermilion border||-|
|Underdeveloped nasal alae||-|
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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