FG syndrome
Overview
A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
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 * 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
Causes
* Benign congenital hypotonia * Chromosome abnormalities: Trisomy 21, trisomy 13, Prader-Willi, cri-du-chat * Hypoxic ischemic encephalopathy * Spinal muscular atrophy (SMA) * Infantile botulism * Hypothyroidism * Spinal cord injury * Cerebral malformations * Toxins: Organophosphates, aminoglycosides, antineoplastic agents, chloroquine, glue-sniffing * Myasthenia gravis –Transient neonatal myasthenia –Congenital myasthenia –Familial infantile myasthenia * Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP) * Muscular dystrophy: Duchenne, Becker, facioscapulohumeral, Fuluyama, merosindeficient congenital muscular dystrophy * Congenital myotonic dystrophy * Hereditary motor-sensory neuropathy * Metachromatic leukodystrophy * Globoid cell leukodystrophy * Congenital myopathies: Central core disease, myotubular, nemaline (rod), congenital fiber-type disproportion * Peroxisomal disorders –Neonatal adrenoleukodystrophy, Zellweger * Hypermagnesimia * Myositis * Lipid storage muscular disorders * Mitochondrial encephalomyopathy * Pompe disease (glycogen storage disease type II, acid maltase deficiency) * McArdle disease * Walker-Warburg syndrome * Lowe syndrome (oculocerebrorenal) * Werdnig-Hoffman Disease * Familial dysautonomia * Tick paralysis * Poliomyelitis
Diagnosis
First stepis to determine whether disorder involves nervous system includingneuromuscular system. This can usually be accomplished by historyand physical exam. If disorder involves nervous system,next step is to define anatomic level of abnormality—brain,spinal cord, anterior horn cell, peripheral nerve, neuromuscularjunction, or muscle. This can usually be accomplished by consideringdistinguishing features (e.g., pattern of weakness, deep tendonreflexes, presence of sensory loss or fasciculations, serum muscleenzyme levels, CSF findings, electromyographic pattern, nerve conductionvelocities, and muscle biopsy).Final step is to make specific diagnosis,which usually can be done by analysis of the above findings, otherclinical findings, and other investigations.
Treatment
* Benign congenital hypotonia * Chromosome abnormalities: Trisomy 21, trisomy 13, Prader-Willi, cri-du-chat * Hypoxic ischemic encephalopathy * Spinal muscular atrophy (SMA) * Infantile botulism * Hypothyroidism * Spinal cord injury * Cerebral malformations * Toxins: Organophosphates, aminoglycosides, antineoplastic agents, chloroquine, glue-sniffing * Myasthenia gravis –Transient neonatal myasthenia –Congenital myasthenia –Familial infantile myasthenia * Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP) * Muscular dystrophy: Duchenne, Becker, facioscapulohumeral, Fuluyama, merosindeficient congenital muscular dystrophy * Congenital myotonic dystrophy * Hereditary motor-sensory neuropathy * Metachromatic leukodystrophy * Globoid cell leukodystrophy * Congenital myopathies: Central core disease, myotubular, nemaline (rod), congenital fiber-type disproportion * Peroxisomal disorders –Neonatal adrenoleukodystrophy, Zellweger * Hypermagnesimia * Myositis * Lipid storage muscular disorders * Mitochondrial encephalomyopathy * Pompe disease (glycogen storage disease type II, acid maltase deficiency) * McArdle disease * Walker-Warburg syndrome * Lowe syndrome (oculocerebrorenal) * Werdnig-Hoffman Disease * Familial dysautonomia * Tick paralysis * Poliomyelitis