Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people Ectrodactyly, which is  Read More

Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

Metachromatic leukodystrophy-MLD is also known as Greenfield’s disease. Metachromatic leukodystrophy is a lysosomal storage disease, wherein the myelin sheath that covers most of the nerve fibers of the central and peripheral nervous systems gets damaged. 1. The deficiency of the lysosomal enzyme arylsulfatase A - ARSA or its sphingolipid activator protein B -SapB results in MLD or greenfield disease.  Read More

Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 7th nerve is aff  Read More

Paramyotonia congenita is a rare muscular disorder inherited as an autosomal dominant trait. This nonprogressive disorder is characterized by a condition in which the muscles do not relax after contracting (myotonia). Symptoms can be triggered by exposure to the cold. There are also intermittent periods of a type of paralysis in which there is no muscle tone (flaccid paresis). This condition does not necessarily coincide with exposure to cold  Read More

A soft-tissue malignancy, in simple terms, is a type of cancer, while common in children, is comparatively rare in middle-aged adults (45+). It is said to be the result of translocation of primitive mesenchymal cells. This transformation occurs when parts of the DNA are swapped from one chromosome to another, and tends to occur at the time of a single cell splitting into two independent ones. Pulmonary Rhabdomyosarcoma  Read More

Russell-Silver Syndrome is a genetic condition, classified under growth disorders that slow down and restrict development at the expected rate. It is prominent before and after birth. Babies born with this condition will weigh significantly less than healthy babies, and often fail to mature physically. In other words, they fail to thrive. Disproportionate head in relation to the rest of the body, low birth rate, as  Read More

Russel-silver dwarfism, also known as Russel-silver syndrome, is a developmental disease. As the name suggests, a person born with the disease grows dwarf, with an average height in adulthood being 3 feet. The baby is born with macrocephaly and an underdeveloped body by size. Other clinical features include unusually prominent forehead (frontal bossing), progressive limb length discrepancy, growth failure, and feeding difficul  Read More

Sandhoff disease is an exceedingly rare lysosomal storage condition. It induces nerve cell damage (neurodegeneration). This causes issues with thinking and movement. Sandhoff illness is caused by faulty HEXB gene mutations. Negative alterations in this gene result in lower levels of two enzymes in the cell's recycling centers (lysosomes). Certain fats (lipids) accumulate in enormous levels in nerve cells in the absence of thes  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterized by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterised by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two ways: one is nonsyn  Read More