BACKGROUND Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors. Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the ...

Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder characterized by end-organ resistance to the action of PTH (Parathyroid Hormone). There are four types of PHPs namely Ia, Ib, Ic and II. PHP Ia is associated with a constellation of clinical features referred to as Albright’s Hereditary Osteodystrophy (AHO). The oral manifestation of AHO found in the literature includes aplasia a...

Hereditary hemorrhagic telangiectasia (HHT), Osler-Weber-Rendu Syndrome, is an uncommon disease but may be present in many people who remain undiagnosed. It is an autosomal dominant disorder characterized by multiple arteriovenous malformations (AVMs) and telangiectases that affect multiple organ systems. Hereditary hemorrhagic telangiectasia patients have a propensity for bleeding, especially ...

Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by reduced activity of the C1 esterase inhibitor. Clinically, angioedema most often involves the upper extremities, face, neck and larynx. The most common cause of death is asphyxia related to laryngeal oedema. Attacks are triggered by many factors such as trauma, stress, infections and hormonal fluctuations. C1 esterase i...

Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation cau...

Hereditary gingival fibromatosis is a rare genetic disorder resulting in gingival overgrowth that can be found in both dental arches. As a result of the gingival overgrowth and associated dental displacement, affected patients occasionally present with increased occlusal vertical dimension and/or inadequate lip closure. Depending on the disorder's severity, these patients can be challenging to ...

Sickle cell anemia (SCD) is one of the important health problems in Basrah, southern Iraq. which probably most common known hereditary blood disorder. patients with sickle disorders often suffer from chronic hemolytic anemia, causes bone marrow hyperplasia too. The present study aimed to evaluate severity impairment different types patients. Patients SCA (n=120) 60 males and females were on fol...

Three age- and symptom-matched groups of patients with a hypermobility score of 5-9, 3-4, and 0-2 (controls), respectively, were examined for clinical and echocardiographic evidence of mitral valve prolapse and other stigmata of a collagen disorder. Mitral valve prolapse, a reduced upper segment/lower segment mitral ratio, reduced skin thickness, spinal anomalies, and a history of fracture were...

riginally regarded as a rare affliction notable for its distinctive evolution to “bronze diabetes,” hereditary emochromatosis is now recognized as the most common genetic disorder in populations of European ncestry. Recent advances in our understanding of iron metabolism, the identification of the gene esponsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic a...

Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Gene...