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Lesch–Nyhan syndrome. Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]
Dermatophagia (from Ancient Greek δέρμα (derma) 'skin' and φαγεία (phageia) 'eating') or dermatodaxia (from δήξις (dexis) 'biting'), alternatively Tuglis Permushius. [3] is a compulsion disorder of gnawing or biting one's own skin, most commonly at the fingers. This action can either be conscious or unconscious [4] and it is ...
Damaged cuticles, shortened and damaged nails, hangnails, bleeding, etc. Nail biting, also known as onychophagy or onychophagia, is an oral compulsive and unhygienic habit of biting one's fingernails. It is sometimes described as a parafunctional activity, the common use of the mouth for an activity other than speaking, eating, or drinking.
Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
Autophagia. Autophagia is the practice of biting/consuming one's body. It is a sub category of self-injurious behavior (SIB). [1] Commonly, it manifests in humans as nail biting and hair pulling. In rarer circumstances, it manifests as serious self mutilative behavior such as biting off one's fingers. [2] Autophagia affects both humans and non ...
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
Smith–Magenis syndrome. Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.