FG syndrome 4
Overview
A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
Symptoms
* Mental deficiency * Delayed motor development * Reduced muscle tone * Abnormal EEG * Seizures * Strabismus * Hyperactivity * Short attention span * Affable personality * Extroverted personality * Temper tantrums when frustrated * Short stature * Large head * Large anterior fontanel * Prominent forehead * Frontal hair upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair * Sparse hair * Epicanthal folds * Short space between eyelids * Down slanting space between eyelids * Narrow palate * Large cornea * Anal abnormalities * Narrowed anal opening * Absent anal opening * Anus misplaced forwards * Constipation * Broad thumbs * Broad big toes * Clinodactyly * Camptodactyly * Multiple joint contractures * Syndactyly * Simian crease * Minor vertebral defects * Abnormal sternum * Sacral dimple * Undescended testes * Low dermal ridge count * Persistent fetal fingertip pads * Cardiac defect * Sensorineural deafness
Diagnosis
This medical information about signs and symptoms for FG syndrome 4 has been gathered from various sources, may not be fully accurate, and may not be the full list of FG syndrome 4 signs or FG syndrome 4 symptoms. Furthermore, signs and symptoms of FG syndrome 4 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed FG syndrome 4 symptoms.