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Visual snow syndrome is often linked to heightened neural sensitivity in the visual system and may require diagnosis and treatment, as it could be associated with underlying eye conditions or neurological disorders. [citation needed] In summary: Visual snow as a temporary occurrence under certain conditions is normal and doesn't require ...
Donohue syndrome is an extremely rare disorder that occurs in one of every million births worldwide. Several dozen cases have been reported in the medical community, and in the reported cases of the disorder, it has been found that the females are twice as likely to have the disorder as men.
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome.
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [ citation needed ] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [ 1 ]
Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
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.
Epidermal nevus syndrome, also known as Feuerstein and Mims syndrome, [1] [2] and Solomon's syndrome [1]: 775 [3] is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes.
Bannayan–Riley–Ruvalcaba syndrome; Other names: BRRS: Autosomal dominant is the manner in which this condition is inherited: Specialty: Oncology, medical genetics Symptoms: Enlarged head [1] Causes: Mutations in the PTEN gene [2] Diagnostic method: Based on signs and symptoms [3] Treatment: Based on symptoms [3]