CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%)(H) = heart defects in 75-85%, especially tetralogy of Fallot(A) = atresia of the choanae (blocked nasal breathing passages) (50-6  Read More

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.  Read More

Congenital muscular dystrophy in its most severe form, hard +/-e syndrome, is accompanied by abnormalities of the brain and eyes. Typical signs and symptoms include hypotonia, muscle weakness, developmental delay, intellectual dysfunction, and sporadically occurring seizures. Lissencephaly, hydrocephalus, cerebellar deformities, eye abnormalities, and other abnormalities are also linked to it. Although the genetic etiology is  Read More

Hutterite syndrome bowen-conradi type is a condition that affects numerous body systems and usually results in infant death. Affected people have low birth weights, struggle with eating, and grow very slowly. Their head is longer than expected relative to its width despite having an extremely small head overall (microcephaly) (dolichocephaly). A broad, high-bridged nose and an exceptionally small jaw (micrognathia  Read More

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it. Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen ins  Read More

Neill-Dingwall syndrome, also known as Cockayne syndrome, is a disorder characterized by a variety of clinical features, including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties. It is an autosomal recessive genetic disorder, which leads to death by the age of 12 years on ave  Read More

Symptoms and Signs of tas midline defect The detailed clinical manifestations of Cantrell's pentalogy can vary greatly from person to person. Some newborns could have mild defects due to the disorder's incomplete expression. Other babies may face life-threatening complications. 1. The most severe form of Cantrell pentalogy manifests at birth with ectopia cordis and omphalocele. Ectopia Cordis is a serious co  Read More

A genetic condition called Walker-Warburg syndrome (WWS) affects how the muscles, brain, and eyes grow. It is the most severe instance of a class of genetic disorders called congenital muscular dystrophies, which result in early-life muscle weakening and atrophy. Walker-Warburg syndrome's warning signs and symptoms appear at birth or in the first few months of life. The majority of those affected by Walker-Warburg  Read More