Health and Fitness

Phelan-McDermid Syndrome Overview Phelan-McDermid syndrome is a rare genetic disorder that may cause a range of medical, intellectual and behavioral concerns. These concerns may include: Feeding difficulties. Muscle weakness. Speech and developmental delays. Autism spectrum disorder. Epilepsy. The disorder is also called 22q13.3 deletion syndrome. Symptoms The signs and symptoms of Phelan-McDermid syndrome vary widely. They may be mild, moderate or severe. They may appear at birth, during infancy or in early childhood. And they may be physical, behavioral, intellectual or a combination. Symptoms your child may have include: Developmental delay (not hitting milestones at expected times, such as rolling over, sitting up or walking). High pain tolerance. Muscle weakness (hypotonia). Speech problems (absent or delayed ability to talk). Sleep disorders. Tendency to sweat less than normal, which can lead to overheating and dehydration. Trouble eating or swallowing. Gastrointestinal issues li...

  Paraneoplastic pemphigus Overview Paraneoplastic pemphigus (PNP) is a rare, severe autoimmune blistering disease triggered by an underlying cancer, often a lymphoma, causing painful blisters and erosions on skin and mucous membranes (especially the mouth). It involves autoantibodies attacking proteins that hold skin cells together, leading to widespread tissue breakdown and potentially fatal complications like bronchiolitis obliterans (lung inflammation). Diagnosis requires clinical signs, biopsies, and specific autoantibody tests, with treatment focused on controlling the underlying tumor and immunosuppression, though prognosis remains poor.  Symptoms Mucosal (Mouth/Throat): The most prominent symptom, featuring severe, painful, persistent erosions, ulcers, and crusting, especially on the lips (vermilion border) and tongue.  Skin : A mix of blisters, erosions, crusts, and red/purple, scaly patches (lichenoid eruptions) that can look like other skin conditions (e.g., l...

Pantothenate Kinase-Associated Neurodegeneration Overview Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and postural disturbances (extrapyramidal). These disorders show radiographic evidence of iron accumulation in the brain. PKAN is typically diagnosed by molecular genetic testing, most often after a characteristic finding on magnetic resonance imaging (MRI), called the “eye-of-the-tiger” sign, is detected. PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical. Classic PKAN typically appears in early chil...

Pallister-Killian Syndrome Overview Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder that is present at birth. The prevalence has been estimated to be 1 in 20,000; however, it is likely that PKS is underdiagnosed due to the difficulty of making a cytogenetic diagnosis from a blood test. The signs and symptoms of Pallister-Killian syndrome vary from child to child and range in severity. Typically, children with this diagnosis have extremely weak muscle tone (hypotonia), intellectual impairment and developmental delays, distinct facial features, skin pigmentation differences, seizures, and other birth defects. Additionally, babies with Pallister-Killian syndrome often experience a variety of developmental complications related to weak muscle tone, including: Breathing and feeding difficulties Delays in gross motor skills such as sitting, standing, and walking Developmental and speech delays Pallister-Killian syndrome is also known as isochromosome 12p syndrome, tetr...

Orofaciodigital syndrome Overview Oro-facial-digital syndrome (OFDS) is a group of rare genetic disorders causing developmental problems in the mouth, face, and fingers/toes, with at least 13 types identified, often including tongue abnormalities (nodules, clefts), cleft lip/palate, dental issues, wide-set eyes, and extra/fused/short digits (polydactyly, syndactyly, brachydactyly). Associated symptoms can also involve brain, kidney, and central nervous system issues, leading to intellectual disability, with different types having varied inheritance patterns (e.g., X-linked for Type 1) and features like polycystic kidney disease.  Oral-facial-digital syndrome (OFDS) is a group of conditions that affect the development of their oral cavity (mouth, tongue, teeth, and jaw), face (head, eyes and nose) and finger and toes (digits). Common signs and symptoms include a split (cleft) in the lip and a tongue with an unusual lobed shape. There may also be growth of noncancerous tumors or nodu...

Opsoclonus-Myoclonus Syndrome Overview Opsoclonus-myoclonus syndrome (OMS) is a rare autoimmune condition that usually affects young children. Most children with OMS are diagnosed at around 18 months of age. OMS affects one out of every 5 million children worldwide, and is slightly more common in girls than boys. In OMS, a small tumor in the body (called a neuroblastoma) or a viral infection triggers the immune system to attack the nervous system. The symptoms of OMS usually begin abruptly and can include rapid, repeated eye movements (opsoclonus or “dancing eyes”), jerking movements (myoclonus), and loss of balance (ataxia). OMS may be initially diagnosed as acute cerebellar ataxia. Most patients with OMS improve with standard immunotherapy treatment, though the relapse rate in children is 50 to 75 percent. Aggressive, early treatment appears to lower the rate of relapse and improve outcomes. Symptoms Opsoclonus-myoclonus syndrome symptoms include rapid, repeated eye movements (opsocl...

Ondine Syndrome Overview Ondine Syndrome, or Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder where the autonomic nervous system fails to control breathing automatically, especially during sleep, leading to dangerously low oxygen and high carbon dioxide levels (hypoventilation). Named after a myth about a nymph's curse, it's caused by PHOX2B gene mutations and often involves other issues like Hirschsprung's disease (Haddad Syndrome) or neural crest tumors, requiring lifelong mechanical ventilation, often via diaphragm pacing.  Symptoms Respiratory: Inadequate or absent breathing (apnea/hypoventilation) during sleep (most common), with normal breathing while awake; can be severe enough to affect waking hours. Neurological/Autonomic: Abnormal pupil responses (pupillary anomalies, strabismus). Poor heart rate variability, arrhythmias, or bradycardia (slow heart rate). Difficulty swallowing (dysphagia) or esophageal dysmotility. Altered temperatur...