Topic: Marden-Walker syndrome
Question: What are the symptoms of Marden-Walker syndrome ?
Answer: What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. Additional features may include ptosis, arachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations.  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 provides the following list of signs and symptoms for Marden-Walker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Blepharophimosis 90% Cleft palate 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Mask-like facies 90% Microcephaly 90% Muscular hypotonia 90% Narrow mouth 90% Ptosis 90% Radioulnar synostosis 90% Short stature 90% Skeletal muscle atrophy 90% Attention deficit hyperactivity disorder 50% Camptodactyly of finger 50% Intrauterine growth retardation 50% Kyphosis 50% Pectus carinatum 50% Pectus excavatum 50% Scoliosis 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% Hydrocephalus 7.5% Multicystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Situs inversus totalis 7.5% Talipes 7.5% Ventricular septal defect 7.5% Abnormality of the sternum - Agenesis of corpus callosum - Anteverted nares - Autosomal recessive inheritance - Camptodactyly - Cerebellar hypoplasia - Congenital contracture - Cryptorchidism - Dandy-Walker malformation - Decreased muscle mass - Dextrocardia - Epicanthus - Fixed facial expression - High palate - Hypertelorism - Hypoplasia of the brainstem - Hypospadias - Inferior vermis hypoplasia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Long philtrum - Low-set ears - Micropenis - Microphthalmia - Postnatal growth retardation - Primitive reflexes (palmomental, snout, glabellar) - Pulmonary hypoplasia - Renal hypoplasia - Seizures - Short neck - Strabismus - Talipes equinovarus - Wide anterior fontanel - Zollinger-Ellison syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)