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Pompe Disease

Pompe Disease Overview What is Pompe disease? Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells. The disease results from the deficiency of a digestive enzyme called acid alpha-glucosidase (GAA). GAA normally breaks down complex sugars in your body. Other names for the condition include: Pompe’s disease. Acid maltase deficiency. Glycogen storage disease type II (GSD2). Providers also refer to Pompe disease (pronounced “pom-pay”) as a lysosomal storage disease. Lysosomes are small compartments inside your cells that hold and recycle certain substances. Enzymes such as GAA (or acid maltase, hence the name acid maltase deficiency) help break down these substances. A lack of this enzyme causes glycogen to build up within the lysosomes. This buildup occurs in the cells of your organs and tissues, especially your heart and skeletal muscles, causing them to break down. Types of this condition Resear...
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Weyers acrofacial dysostosis

Weyers acrofacial dysostosis Overview Weyers acrofacial dysostosis (WAD), or Curry-Hall syndrome, is a rare autosomal dominant skeletal dysplasia characterized by postaxial polydactyly (extra fingers/toes), nail dystrophy, dental anomalies (small/conical teeth), and mild short stature. It is caused by mutations in the EVC2 gene and is generally a milder, non-lethal form of Ellis-van Creveld syndrome, usually without heart defects Symptoms Limb Anomalies : Postaxial polydactyly (extra digits on the hands or feet, usually on the pinky side) and fusion of the 5th and 6th metacarpals/metatarsals. Dental Anomalies : Hypodontia (fewer teeth than normal), microdontia (small teeth), peg-shaped or conical teeth, and single central incisors. Nail Dystrophy : Abnormally small, brittle, or malformed fingernails and toenails (onychodystrophy). Facial Features: Micrognathia (small lower jaw/mandible), small mouth, and abnormal dentation. Growth: Mildly short stature (often around the 5th percentile...
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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 ...
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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:...
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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...
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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 ...
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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...
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