Affected individuals are often short in stature. Behavioral symptoms include aggression and depression, but these may be secondary to the emotional consequences of significant physical disabilities associated with the disorder.<unk><unk>  patients may be affected by chewing and swallowing difficulties, for which there are diagnostic assessments. Among these are the Videofluoroscopic Swallowing Evaluation (VFSE), the Karaduman Chewing Performance Scale, and the Penetration Aspiration Scale (PAS) which is used to evaluate accidental aspiration of food particles. The Pediatric Assessment Tool (PEDI-EAT-10) also includes measurement of severity of dysphagia (difficulty in swallowing). Molecular genetic testing can be used to confirm the genetic diagnosis of<unk>  or to assess pregnancy risk in affected families. Symptoms table: * Generally symptoms listed as "rare" are common in more severe cases. Symptom Description Frequency (male) Frequency (female) When first observed Prognosis Treatment Cognitive disabilities Mental retardation Most severe Ranges from severe to relatively normal intellect Variable Sleep apnea Sleep disorder where breathing starts/stops, a lot of times the person will snore More common Less common Progressive CPAP machine Muscular spasticity Stiff muscles Most common Less common Muscle relaxers Loss of muscle strength Paraplegia or partial paralysis Physical therapy Delayed speech Limited vocabulary Most common Least common Speech therapy Cardiovascular complications Mitral valve dysfunction, congestive heart failure Most severe Common Premature death Stroke Interrupted blood flow to the brain Convulsions Sudden, irregular body movements that can be violent Common Common 1 year of age and onwards Depending on severity can lead to death Medications, such as valproate Stimulus-induced drop attacks (SIDAs) Instantaneous loss of muscle tone as a result of sudden unexpected tactile of auditory stimuli but without loss of consciousness Rare but observed Rare but observed Adolescence Progressive Prescribed benzodiazepines Small/soft/fleshy hands More common Less common At birth Tapered fingers More common Less common At birth Flattened nose Most common Least common but variable Childhood Widely separated/ downward sloping eyes Most common Least common but variable At birth Prominent forehead Protruding forehead Most common Least common but variable Early infancy Wide mouth / large lips Most severe Least common but variable 2 years of age Progressive Sensorineural deafness Hearing Loss Most common Least common No cure; can utilize cochlear implants or hearing aids Kyphoscoliosis Abnormal curvature of the spine in 2 planes, outward rounding of the spine Most severe Least common Progressive Severe cardiorespiratory compromise and ultimately death Physical therapy Short stature Range of height is 115–158cm Most common Least common Early childhood Aggression Violent behavior Risperidone prescription Depression Feelings of sadness Very rare Most severe 20 years of age Psychiatric therapy, selective serotonin reuptake inhibitors Difficulty swallowing Difficult time swallowing Common Common 3 years of age Rehabilitation Difficulty chewing Difficult time chewing Common Common 3 years of age Rehabilitation Coughing while eating Coughing while eating Common Common 3 years of age Rehabilitation Long-lasting wheezing Coughs accompanied with a whistling sound from the chest that lasts long term Common Common 3 years of age Rehabilitation Sputum Coughing up saliva and mucus Common Common 3 years of age Rehabilitation Inability to ingest food Inability to eat food easily Common Common 3 years of age Rehabilitation Imaging studies X-ray and neuroimaging studies may be helpful in confirming a diagnosis of<unk> . Decreased ribosomal S6 kinase activity in cultured fibroblast or transformed lymphoblast cells from a male indicates<unk> . Studies of enzyme activity can not be used to diagnose an affected female. Molecular genetic testing on a blood specimen or cells from a cheek swab is available to identify mutations in the RSK2 gene. This testing can be used to confirm but not rule out the diagnosis of<unk>  because not all affected individuals have a detectable mutation.
Coffin–Lowry syndrome
Irvine–Gass syndrome
Young–Madders syndrome
Nelson's syndrome
Fowler's syndrome
Potocki–Lupski syndrome
Lujan–Fryns syndrome
Worster-Drought syndrome