Orpha Number: 2658
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)|
(present in 5%-29% of cases)
|Abnormality of the dentition||-|
|Anteriorly placed anus||-|
|Aplasia/Hypoplasia of the middle phalanges of the hand||-|
|Delayed cranial suture closure||-|
|Delayed skeletal maturation||-|
|Failure to thrive||-|
|Hyperextensibility of the finger joints||-|
|Intellectual disability, moderate||-|
|Intrauterine growth retardation||-|
|Knee flexion contracture||-|
|Lacrimal duct stenosis||-|
|Progressive sclerosis of skull base||-|
|Prominent scalp veins||-|
|Proximal symphalangism of hands||-|
|Sensorineural hearing impairment||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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