Skip to main content

Posts

Peeling skin syndrome 2 (PSS2)

Peeling skin syndrome 2 (PSS2) Overview Peeling skin syndrome 2 (PSS2), also known as Acral Peeling Skin Syndrome (APSS), is a rare, inherited skin disorder characterized by painless, continuous exfoliation of the top layer of skin, particularly on the hands and feet. It is caused by genetic mutations, often in the \(TGM5\) gene, and is often worsened by heat, humidity, and moisture. Symptoms Localized Peeling: Primary, ongoing exfoliation of the skin on the palms of the hands and soles of the feet, occasionally extending to the arms and legs. Painless Exfoliation: The skin peels off in sheets or patches, often without pain, itching, or redness, although it can be temporarily red and itchy (erythema). Triggered by Moisture: Skin shedding is accelerated by humidity, sweating, and heat. No Scarring: Despite the constant peeling, the skin underneath usually heals without scarring. Onset Timing: Symptoms frequently appear at birth or in early childhood, although they may appear later ...
Post a Comment
Read more
Recent posts

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome Overview Saethre-Chotzen syndrome (SCS) is a rare genetic disorder characterized by craniosynostosis (premature fusion of skull bones), leading to an asymmetrical head/face, low hairline, droopy eyelids (ptosis), and often, partial webbing of fingers. It is inherited in an autosomal dominant manner, typically caused by TWIST1 gene mutations. Treatment usually involves surgeries to release skull sutures and manage facial, limb, or developmental issues.  Symptoms Craniosynostosis: Premature closure of skull bones (usually the coronal suture) leading to an abnormally shaped head. Facial Asymmetry: One side of the face may look different from the other. Droopy Eyelids (Ptosis): A common feature. High Forehead/Low Hairline: A flat forehead and low hairline are common. Ear Anomalies: Small, low-set, or malformed ears. Midface Hypoplasia: The mid-facial region may appear flat or underdeveloped. Beaked Nose: A distinct nose shape. Causes TWIST1 Gene Mutation:...
Post a Comment
Read more

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome Overview Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit abnormally long, thin fingers and toes and/or deformed (dysplastic) or absent nails at birth. In some cases, mental retardation may also be present. In most cases, Laband syndrome is believed to be inherited as an autosomal dominant trait. However, evidence of autosomal recessive inheritance has also been reported. Symptoms Laband syndrome is an extremely rare genetic disorder characterized by abnormalities of the head and face (craniofacial) area and the fingers and toes, particularly the thumbs and great toes. Abnormalities affecting the fingers and toes may be appa...
Post a Comment
Read more

Postnatal depression

Postnatal depression What is postnatal depression? Many new parents feel tired or overwhelmed, but postnatal depression is different. In postnatal depression, you may have feelings of: sadness numbness hopelessness These symptoms affect your ability to cope with and enjoy your daily life. Postnatal depression is common, affecting about 1 in 7 women in the first year after having a baby. Up to 1 in 10 fathers also experience depression around this time. If you have symptoms of depression, there's lots of support available to help you get back to enjoying life and your new baby. Getting help early is best for both you and your baby. What are the symptoms of postnatal depression? People experience postnatal depression differently, but many people will have similar symptoms or difficulties. Sometimes, signs of depression are missed or dismissed as a normal part of life with a new baby. So, it's a good idea to be aware of the common signs of postnatal depression. Common symptoms of ...
Post a Comment
Read more

Paroxysmal Nocturnal Dyspnea (PND)

Paroxysmal Nocturnal Dyspnea (PND) Overview What is paroxysmal nocturnal dyspnea (PND)? Paroxysmal nocturnal dyspnea (PND) is when you’re suddenly awakened feeling short of breath. Unlike orthopnea, it doesn’t happen when you’re awake and lying down or reclining, only when you’re asleep. PND can feel scary, like you can’t breathe or are working hard to get a deep breath. You may gasp for air and cough. It can be particularly jarring because it wakes you suddenly, after an hour or two of sleep. Sitting up helps you feel better within about 10 to 15 minutes. Paroxysmal nocturnal dyspnea is pronounced “pair-uh-SIZ-muhl knock-TUR-nuhl DISP-nee-uh.” Possible Causes What causes paroxysmal nocturnal dyspnea? Heart, lung and neurological issues are the most common causes of sudden breathlessness when you’re sleeping: Heart disease. When you’re lying down, your blood moves from your legs to your lungs. If your heart can’t move the extra blood out efficiently, the extra fluid puts pressure on y...
Post a Comment
Read more

Acrocallosal Syndrome

Acrocallosal Syndrome Overview Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Characteristic craniofacial abnormalities may include an unusually large head (macrocephaly) with a prominent forehead, widely spaced eyes (ocular hypertelorism), downslanting eyelid folds (palpebral fissures), a small nose with a broad nasal bridge; and malformed (dysplastic) ears. Most affected individuals also have distinctive digital m...
Post a Comment
Read more

ACAD9 deficiency

  ACAD9 deficiency Overview ACAD9 deficiency is a rare, autosomal recessive metabolic disorder that impairs mitochondrial function, leading to reduced energy production. It primarily causes severe muscle weakness, hypertrophic cardiomyopathy (enlarged heart), and lactic acidosis. Often presenting in infancy, it can be fatal but may respond to high-dose Riboflavin therapy. Symptoms Muscle Issues (Myopathy): Low muscle tone (hypotonia), muscle weakness (myopathy), and exercise intolerance (fatigue). Cardiac Issues (Cardiomyopathy) : Enlarged and weakened heart muscle (hypertrophic cardiomyopathy is common), rhythm abnormalities, and potential heart failure. Neurological Issues: Intellectual disability, developmental delays, seizures, and sometimes movement disorders. Metabolic Crisis: Acute symptoms can include severe lactic acidosis, liver dysfunction, vomiting, and failure to thrive in infants. Other Symptoms: Shortness of breath, fatigue, and in some cases, Leigh's syndrome (a ...
Post a Comment
Read more