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 bone mineral density||90%|
|Abnormality of dental enamel||90%|
|Abnormality of epiphysis morphology||90%|
|Decreased antibody level in blood||90%|
|Delayed skeletal maturation||90%|
|Intrauterine growth retardation||90%|
|Recurrent respiratory infections||90%|
|Abnormality of neutrophils||50%|
|Abnormality of the ribs||50%|
|Downturned corners of mouth||50%|
|Autosomal recessive inheritance||-|
|Hypoplasia of dental enamel||-|
|Radial deviation of finger||-|
|Severe short stature||-|
|Short middle phalanx of finger||-|
|Short middle phalanx of toe||-|
|Short proximal phalanx of hallux||-|
|Short proximal phalanx of thumb||-|
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.