What causes 3M syndrome?
The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by mutations in one of three genes : CUL7, OBSL1, and CCDC8. It is inherited in an autosomal recessive pattern. Diagnosis is based on the presence of clinical features.
How common is 3M syndrome?
Three M syndrome is an extremely rare inherited disorder that appears to affect males and females in equal numbers. Approximately 25 cases have been reported in the medical literature since the disorder was first described in 1972.
How many people have 3M syndrome?
Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified.
How many people have aarskog?
Affected Populations An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
What is CCC disease?
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and …
What is Russell Silver syndrome disease?
Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
What is the cause of aarskog syndrome?
Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called “faciogenital dysplasia” (FGD1).
Can aarskog Scott syndrome cause infertility?
Some children with Aarskog–Scott syndrome are born with serious heart defects. Some males suffer reduced fertility.
What is a CCC in hospital?
The Clinical Care Classification (CCC) System is a standardized, coded nursing terminology that identifies the discrete elements of nursing practice. The CCC provides a unique framework and coding structure. Used for documenting the plan of care; following the nursing process in all health care settings.
Can you get pregnant with Russell-Silver syndrome?
An adult female with typical features of Silver-Russell dwarfism gave birth to a viable infant. Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females.
Can Russell-Silver syndrome cure?
Treatment for RSS focuses on treating its symptoms so the child can develop as normally as possible. Treatments to help with growth and development include: a nutrition schedule with specified snack and meal times. growth hormone injections.
