Hanhart syndrome is a rare birth defect in which the most obvious signs are a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia). A more complete list of other signs frequently encountered may be found below. The severity of these physical abnormalities varies greatly from case to case. Children wit  Read More

Risk factors of Hartnup disease: 1. Hartnup disease is caused by mutations in the SLC6A19 gene. These mutations are inherited in an autosomal recessive manner. 2. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. 3. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same  Read More

The cleft palate repair is done surgically when the child is about 1 to 2 years old.  Read More

Infantile spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons of the spinal cord. It is the most common form of SMA, and it usually appears at birth or during infancy. The first signs are often poor suckling reflexes and a weak cry, which may be followed by muscle weakness and stiffness in the arms and legs. As the disease progresses, it typically causes permanent disability. There a  Read More

Infantile spinal muscular atrophy type I (SMA) is a genetic disorder that results in progressive muscle weakness in infants and children, typically before the age of 2. This disease is caused by a mutation in the SMN1 gene, which produces a protein called survival motor neuron. This protein is essential for normal nerve cell function. 1. The first signs of SMA typically begin between 6 and 18 months of age and inc  Read More

Microcephaly is an uncommon neurological ailment in which an infant's head is significantly smaller than other kids of the same age and gender. Microcephaly, which is sometimes discovered at birth, arises when there is an issue with brain growth in pregnancy or when the brain stops expanding after birth.A range of genes and environmental influences can contribute to microcephaly. Children with microcephaly frequently hav  Read More

Multiple exostoses syndrome, which is benign bone tumors with cartilage caps that grow outward from the metaphyses of long bones, is the hallmark of multiple hereditary osteochondromas (HMO), formerly known as hereditary multiple exostoses (HME). Reduced skeletal growth, bone deformities, reduced joint motion, short stature, early osteoarthritis, and compression of peripheral nerves have all been linked to osteochondromas. Nea  Read More

Nager Acrofacial Dysostosis Syndrome is a rare genetically inherited disorder where the newborn shows signs of craniofacial malformations. It's mostly associated with irregularities of the thumb and forearms. In particular circumstances, underdevelopment of bones in the face and hands is visible, while poor development of the cheek and jaw area is seen. Weak movement in the elbow is Cures/medications for Nager Acro  Read More

Roberts Sc-phocomelia Syndrome is a rare autosomal recessive condition where the onset of prenatal growth is carried over into the postnatal period. It is identified with extreme malformations, craniofacial abnormalities, and impaired cognitive development, including cardiac and renal anomalies. A cause of this can be disruptions and changes of the gene situated on the shorter arm (p) of chromosome 8. Cure/medicati  Read More

Symptoms of the west syndromeWest syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia, and intellectual disability. The spasms that occur range from violent jackknife where the body bends in half or very mild twitching of the shoulder. They usually occur at an early age or can occur at an older age where they are called epileptic sp  Read More