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84 Possible Causes for Autosomal Recessive Form Has Also Been Described

  • Freeman-Sheldon Syndrome

    The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar[…][ncbi.nlm.nih.gov]

  • Acidosis

    A recessive subtype of dRTA associated with anemia has also been described in Southeast Asia. AR forms are frequently diagnosed in infants and young children.[orpha.net] Hereditary dRTA subtypes include autosomal dominant (AD) and autosomal recessive (AR) dRTA (see these terms).[orpha.net]

  • Haddad Syndrome

    An autosomal dominant form has also been described. [ 1 ] It is characterised by: [ 2 ] Recurrent bacterial infections of the sinuses and lungs.[patient.info] Synonym: Wiskott-Aldrich-Huntley syndrome This is an X-linked recessive condition with immunodeficiency as an underlying problem.[patient.info]

  • Familial Prostate Cancer

    Familial angiolipomatosis is a rare condition characterized by multiple angiolipomas that has been described as having an autosomal-recessive transmission pattern.[mdedge.com] Autosomal-dominant inheritance also may occur, as illustrated in the current case report.[mdedge.com] Awareness of the autosomal-dominant form of this entity is important to prevent its misdiagnosis as neurofibromatosis type I, which has a similar family history and clinical[mdedge.com]

  • Familial Angiolipomatosis

    Familial angiolipomatosis is a rare condition characterized by multiple angiolipomas that has been described as having an autosomal-recessive transmission pattern.[mdedge.com] Autosomal-dominant inheritance also may occur, as illustrated in the current case report.[mdedge.com] Awareness of the autosomal-dominant form of this entity is important to prevent its misdiagnosis as neurofibromatosis type I, which has a similar family history and clinical[mdedge.com]

  • Adrenal Insufficiency

    Still another type of adrenal hypoplasia congenita, an autosomal recessive form of uncertain etiology, has also been described (OMIM 240200 ).[emedicine.com]

  • Monilethrix

    An autosomal recessive form has also been described in a few families, caused by mutations in the DSG4 gene, coding for the desmoglein 4 protein, also involved in hypotrichosis[orpha.net] […] dominant form of the disease.[orpha.net] Etiology Four genes have been associated with monilethrix: KRT81, KRT83 and KRT86, coding for the type II hair keratins Hb1, Hb3 and Hb6, and are responsible for the autosomal[orpha.net]

  • Déjerine-Sottas Disease

    Although it is predominantly inherited as an autosomal recessive condition, autosomal dominant inheritance has also been described.[ncbi.nlm.nih.gov] To date, the autosomal recessive forms of DSD are classified into several CMT type 4 (CMT4) subclasses based on allelic heterogeneity.[ncbi.nlm.nih.gov] It represents a severe form of hypertrophic axonal and demyelinating neuropathy.[ncbi.nlm.nih.gov]

  • Familial Visceral Myopathy

    Involvement of the iris has also been described in one family with autosomal dominant transmission (1).[docslide.com.br] Digestive Diseases and Sciences, Vol. 37, No, 3 (March 1992) 467 intestine but bladder involvement has never been described.[docslide.com.br] Symptoms in the dominant type are variable, whereas patients with the recessive form usually present with severe abdominal pain, intestinal pseudoobstruction, and malnutrition[docslide.com.br]

  • Neonatal Hypoglycemia

    An autosomal dominant form of hyperinsulinemia also has been described.[pedsinreview.aappublications.org] A syndrome of congenital hyperinsulinemia and asymptomatic hyperammonemia associated with mutations in the glutamate dehydrogenase gene also has been described.[pedsinreview.aappublications.org] The mutation(s) responsible for the autosomal dominant form of hyperinsulinism has not yet been identified, but the disorder differs from the autosomal recessive form in that[pedsinreview.aappublications.org]

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