Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation. Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy.
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)|
|Limitation of joint mobility||90%|
|Low-set, posteriorly rotated ears||90%|
|Skeletal muscle atrophy||90%|
|Attention deficit hyperactivity disorder||50%|
|Camptodactyly of finger||50%|
|Intrauterine growth retardation||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Situs inversus totalis||7.5%|
|Ventricular septal defect||7.5%|
|Abnormality of the sternum||-|
|Agenesis of corpus callosum||-|
|Autosomal recessive inheritance||-|
|Decreased muscle mass||-|
|Fixed facial expression||-|
|Hypoplasia of the brainstem||-|
|Inferior vermis hypoplasia||-|
|Joint contracture of the hand||-|
|Postnatal growth retardation||-|
|Wide anterior fontanel||-|
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My daughter has been diagnosed with Marden-Walker syndrome. What can you tell me about this condition? See answer