Cat’s eye syndrome is the name given to a rare hereditary disease. Among other things, it causes changes in the eyes. What is cat eye syndrome? In medicine, cat’s eye syndrome is also known as coloboma anal atresia syndrome or Schmid-Fraccaro syndrome. In this hereditary disease, eye changes (coloboma) and malformations of the rectum (anal … Cats Eye Syndrome: Causes, Symptoms & Treatment
Griscelli syndrome is an autosomal recessive inherited pigmentary disorder of the skin and hair, of which three different manifestations, type 1 to type 3, are known. Each type of the inherited disorder is caused by mutations at different genes and is associated to varying degrees with concomitant spleen and liver enlargement, decreased neutrophil granulocyte counts, … Griscelli Syndrome: Causes, Symptoms & Treatment
Patients with Carney complex are conductively symptomatic of hormonal imbalances and myxomas. The disease is a mutation-related inherited disorder. Treatment is supportive symptomatic and primarily involves surgical removal or monitoring of myxomas and other tumors. What is a Carney complex? So-called myxomas are benign tumors composed of unformed connective tissue and mucinous gelatinous substance. The … Carney Complex: Causes, Symptoms & Treatment
People with syndactyly have a congenital deformity of the hands and feet. Fused fingers and toes are conspicuous. Syndactyly can occur alone or in conjunction with other hereditary diseases. What is syndactyly? Syndactyly is a malformation of hands or feet that occurs during the embryonic stage of development. The separation of the toes and fingers, … Syndactyly: Causes, Symptoms & Treatment
Nijmegen breakage syndrome is the name given to a rare disease that is already congenital. It involves a disorder of the DNA repair mechanism. What is Nijmegen breakage syndrome? Nijmegen breakage syndrome (NBS) is an exceedingly rare autosomal recessive disorder. It belongs to the group of chromosomal instability syndromes and is manifested by a variety … Nijmegen Breakage Syndrome: Causes, Symptoms & Treatment
Rothmund-Thomson syndrome is the name given to a genetic skin disorder. Its inheritance is autosomal recessive. What is Rothmund-Thomson syndrome? Rothmund-Thomson syndrome (RTS) is one of the genetic skin diseases. In this case, there is marked poikiloderma, especially in the facial region, which is associated with orthopedic and ophthalmologic complaints. In addition, there is an … Rothmund-Thomson Syndrome: Causes, Symptoms & Treatment
Piebaldism is a form of albinism caused by a mutation. The white forelock of affected individuals is characteristic. Because of their depigmentation, patients are more susceptible to black skin cancer caused by UV light and should avoid excessive sun exposure. What is piebaldism? Albinism corresponds to a group of hereditary disorders that manifest as an … Piebaldism: Causes, Symptoms & Treatment
Holt-Oram syndrome is a malformation syndrome associated primarily with heart defects and abnormalities of the thumbs that results from a mutation. In most cases, the causative mutation occurs sporadically and thus corresponds to a new mutation. Surgical correction of the cardiac defect is the focus of therapy. Holt-Oram syndrome? Congenital malformation syndromes with predominant involvement … Holt-Oram Syndrome: Causes, Symptoms & Treatment
CDAGS syndrome is the medical term for a rare complex of malformations associated primarily with cranial anomalies. The symptom complex has a hereditary basis and results from mutation on chromosome 22. No causal therapy exists to date. What is CDAGS syndrome? CDAGS syndrome is also known as CAP syndrome and corresponds to an extremely rare … CDAGS Syndrome: Causes, Symptoms & Treatment
Lafora disease is also known as progressive myoclonic elepsy 2 or Lafora inclusion body disease. It is an inherited neurologic disorder that belongs to the group of polyglucosan diseases and progressive myclonic epilepsies. It is characterized by muscle spasms, hallucinations, dementia, and complete loss of cognitive abilities. This lethal neurodegenerative disease has an insidious onset … Lafora Disease: Causes, Symptoms & Treatment
Plexus papilloma is a rare benign brain tumor that originates in the choroid plexus surrounding the ventricles of the brain. Plexus papillomas mainly affect infants and children under 12 years of age. Untreated tumors can lead to severe deficits of certain brain areas and the development of hydrocephalus due to increased accumulation of cerebrospinal fluid … Plexus Papilloma: Causes, Symptoms & Treatment
The term progressive familial intrahepatic cholestasis is used to describe three cholestases that are very similar in appearance and can be distinguished from each other by different genetic defects. The diseases are inherited in an autosomal recessive manner and lead to a stasis of bile fluids in the body due to defectively encoded membrane transport … Progressive Familial Intrahepatic Cholestasis: Causes, Symptoms & Treatment
