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Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. [ 1 ] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with ...
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]
In children with limb-length differences or scoliosis, physiotherapy can alleviate the problems caused by these symptoms. In more severe cases, surgery to lengthen limbs may be required. To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe. [citation needed]
Stephanie Turner (1993 [32] – 2017 [33]) third oldest in the US with the same condition, and the first ever to give birth. Turner's two children do not have the disease. She died on March 3, 2017, at age 23. [34] Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35]
As there is no treatment for triploidy, palliative care is given if a baby survives to birth. If triploidy is diagnosed during the pregnancy, termination is often offered as an option due to the additional health risks for the mother ( pre-eclampsia , a life-threatening condition, or choriocarcinoma , a type of cancer).