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Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
Intersex people are individuals born with any of several underlying genetic conditions that cause abnormal development of sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies".
Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, is 10 years old as of January 2024. Doctors told his mother Lisa van Dyk that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance to have another child with the disease .
Ectrodactyly, split hand, or cleft hand [1] (derived from Greek ektroma "miscarriage" and daktylos "finger") [2] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). [3] The hands and feet of people with ectrodactyly (ectrodactyls) are often ...
A tragic photo of a baby born with only one eye and no nose has been circulating the Internet. The baby is being referred to as "baby cyclops" due to the comparisons drawn with the mythical ...
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). [1]
Cyclopia. Cyclopia (named after the Greek mythology character cyclopes ), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin and bone growths appear as they age typically in early childhood.
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae).
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
