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1960: Ervin and Sternbach describe 6 members from a 2-generation family with dominantly-inherited congenital insensitivity to pain. [ 4 ] 1974: Comings and Amromin describe 3 members from a 2-generation family which consisted of a mother, her son and her daughter with the symptoms characteristic of Marsili syndrome, there was a possibility that ...
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental.
A patient and doctor discuss congenital insensitivity to pain. For people with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature [3]), and there are generally no detectable physical abnormalities.
Complete androgen insensitivity syndrome; Complex regional pain syndrome; Computer vision syndrome; Conductive deafness-ptosis-skeletal anomalies syndrome; Congenital bilateral perisylvian syndrome; Congenital contractural arachnodactyly; Congenital generalized lipodystrophy; Congenital insensitivity to pain; Congenital myasthenic syndrome
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) ... List of ICD-9 codes 740–759: congenital anomalies;
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). [6]