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 fingernails||90%|
|Aplasia/Hypoplasia of the distal phalanges of the toes||90%|
|Delayed skeletal maturation||90%|
|Short distal phalanx of finger||90%|
|Wide nasal bridge||90%|
|Abnormal nasal morphology||50%|
|Hypoplasia of the zygomatic bone||50%|
|Intrauterine growth retardation||50%|
|Abnormality of the mitral valve||7.5%|
|Abnormality of the respiratory system||7.5%|
|Atria septal defect||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Coarse facial features||7.5%|
|High anterior hairline||7.5%|
|Symphalangism affecting the phalanges of the hand||7.5%|
|Abnormal facial shape||-|
|Autosomal dominant inheritance||-|
|Congenital cystic adenomatoid malformation of the lung||-|
|Short distal phalanx of the 5th finger||-|
|Short middle phalanx of the 5th finger||-|
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.