Question: What are the symptoms of Proud syndrome ?
Answer: What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Proud 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) Cognitive impairment 90% Microcephaly 90% Seizures 90% Short stature 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Coarse facial features 50% Hypertrichosis 50% Nystagmus 50% Scoliosis 50% Strabismus 50% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Hemiplegia/hemiparesis 7.5% Hernia of the abdominal wall 7.5% Renal hypoplasia/aplasia 7.5% Broad alveolar ridges - Cryptorchidism - High palate - Hirsutism - Hyperconvex nail - Hypospadias - Intellectual disability, progressive - Intellectual disability, severe - Large eyes - Limb joint contracture - Low anterior hairline - Neonatal hypotonia - Optic atrophy - Overlapping toe - Prominent supraorbital ridges - Protruding ear - Renal dysplasia - Spastic tetraplegia - Synophrys - Tapered finger - Tetraplegia - Visual impairment - X-linked inheritance - 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

Question: Is Proud syndrome inherited ?
Answer: How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
Source: GARD