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 cardiovascular system||-|
|Abnormality of the nasopharynx||-|
|Broad femoral head||-|
|Broad femoral neck||-|
|Clinodactyly of the 5th finger||-|
|Cutaneous finger syndactyly||-|
|Downslanted palpebral fissures||-|
|Hypoplasia of the capital femoral epiphysis||-|
|Infancy onset short-trunk short stature||-|
|Intellectual disability, borderline||-|
|Intellectual disability, mild||-|
|Intrauterine growth retardation||-|
|Irregular capital femoral epiphysis||-|
|Irregular vertebral endplates||-|
|Short 3rd metacarpal||-|
|Short 4th metacarpal||-|
|Short fifth metatarsal||-|
|Short fourth metatarsal||-|
|Short middle phalanx of finger||-|
|Single transverse palmar crease||-|
|X-linked recessive inheritance||-|
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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