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 dental enamel||90%|
|Delayed eruption of teeth||90%|
|Rough bone trabeculation||90%|
|Ventricular septal defect||90%|
|Abnormal metaphyseal trabeculation||-|
|Absent frontal sinuses||-|
|Absent paranasal sinuses||-|
|Autosomal recessive inheritance||-|
|Broad femoral neck||-|
|Delayed closure of the anterior fontanelle||-|
|Disproportionate short stature||-|
|Hypoplastic vertebral bodies||-|
|Increased intervertebral space||-|
|Increased susceptibility to fractures||-|
|Irregular vertebral endplates||-|
|Narrow iliac wings||-|
|Obstructive sleep apnea||-|
|Premature loss of teeth||-|
|Progressive bowing of long bones||-|
|Sclerosis of hand bone||-|
|Sclerosis of skull base||-|
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