Clinical Features The Axenfeld-Rieger group of anomalies includes Axenfeld anomaly (defects limited to the peripheral anterior segment of the eye), Rieger anomaly (peripheral abnormalities of the anterior segment with additional changes in the iris), and Axenfeld-Rieger syndrome (eye abnormalities plus nonocular developmental defects; see 180500). In 2 generations of a family, De Hauwere et al. (1973) described a syndrome of iris hypoplasia, ocular hypertelorism, deafness, and psychomotor retardation.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008).
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008).
Hoyme (1993) discussed minor anomalies, including the Darwinian point or tubercle of the pinna, and stated that the significance of minor anomalies lies in the fact that they may be external indicators of occult major anomalies and/or part of a pattern that defines a multiple malformation syndrome. Hunter and Yotsuyanagi (2005) reviewed the embryologic development and morphology of the external ear and suggested that the Darwinian tubercle might lie in the ultimate position of the fifth (hyoid) hillock (as shown in the figures of Streeter, 1922) and represent a simple exuberance of that hillock during embryogenesis, and that the small nick or notch that is sometimes seen in the same area, the so-called 'Darwinian notch,' might represent a relative growth failure. They noted that to date there was no clinical significance or specific syndromic association attached to the Darwinian tubercle.
The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689).
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
Gigantomastia is a rare condition characterized by excessive breast growth. It may occur spontaneously, during puberty or pregnancy, or while taking certain medications. There is no universally accepted definition of gigantomastia, but the majority of medical articles refer to a particular weight of excess breast tissue. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is also associated with decreased fetal growth, if it occurs during pregnancy.
Ferroportin disease form A is generally asymptomatic and has uncommon biological features with high serum ferritin and normal or low transferrin saturation levels Differential diagnosis Differential diagnosis includes i) for hyperferritinemia: alcoholism, polymetabolic syndrome, and inflammatory conditions, ii) for visceral iron overload: post-transfusional iron overload in the case of hematological diseases such as thalassemia major, sickle cell disease, myelodysplastic syndromes, and rare anemias (see these terms).
., cirrhosis and dyskinetic symptoms) with other "pro-oxidant" diseases such as Wilson's disease , chronic manganese poisoning , and hyperuricaemic syndrome in Dalmatian dogs . The latter also experience "bronzing". ... Further investigation has shown that only some people drinking this sort of beer get an iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer ( e.g., African Americans ). ... Dyserythropoeisis, also known as myelodysplastic syndrome , is a disorder in the production of red blood cells. ... "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome" . J Neurol Neurosurg Psychiatry . 59 (3): 318–21. doi : 10.1136/jnnp.59.3.318 . ... External links [ edit ] GeneReview/NIH/UW entry on HFE-Associated Hereditary Hemochromatosis Hereditary haemochromatosis at Curlie Classification D ICD - 10 : E83.1 ICD - 9-CM : 275.0 OMIM : 235200 MeSH : D006432 DiseasesDB : 5490 External resources eMedicine : med/975 derm/878 GeneReviews : HFE -Associated Hereditary Hemochromatosis v t e Metal deficiency and toxicity disorders Iron excess: Iron overload Hemochromatosis Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis deficiency: Iron deficiency Copper excess: Copper toxicity Wilson's disease deficiency: Copper deficiency Menkes disease / Occipital horn syndrome Zinc excess: Zinc toxicity deficiency: Acrodermatitis enteropathica Other Inborn errors of metabolism v t e Cell membrane protein disorders (other than Cell surface receptor , enzymes , and cytoskeleton ) Arrestin Oguchi disease 1 Myelin Pelizaeus–Merzbacher disease Dejerine–Sottas disease Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Surfactant metabolism dysfunction 1, 2 Cell adhesion molecule IgSF CAM : OFC7 Cadherin : DSG1 Striate palmoplantar keratoderma 1 DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11 Integrin : cell surface receptor deficiencies Tetraspanin TSPAN7 X-Linked mental retardation 58 TSPAN12 Familial exudative vitreoretinopathy 5 Other KIND1 Kindler syndrome HFE HFE hereditary haemochromatosis DYSF Distal muscular dystrophy Limb-girdle muscular dystrophy 2B See also other cell membrane proteins
Overview Hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes. There are a few types of hemochromatosis, but the most common type is caused by a gene change passed down through families. Only a few people who have the genes ever develop serious problems. Symptoms usually appear in midlife.
In rare cases (type 0), missing finger rays are the only clinical feature. The disorder is mostly non-syndromic and may be associated with scoliosis, fibular hemimelia, proximal focal femoral deficiency and phocomelia. ... Differential diagnosis The differential diagnosis should include focal fibrocartilaginous dysplasia, dyschondrogenesis, congenital pseudarthrosis of the ulna, Nievergelt syndrome and embryofetopathy due to maternal diabetes mellitus.
Unconditional logistic regression analysis of the modeling chohort revealed that age (OR = 0.92, p = 0.01), CPS1 T1405N (608307.0006) genotype (AC vs AA: OR = 4.08, p = 0.04; CC vs AA: OR = 5.96, p = 0.01), and Down syndrome (OR = 5.25, p = 0.04) were independent predictors of this complex phenotype. ... A 5-variable model that added race, gender, and Down syndrome was not significantly better than the 2-variable model.
A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. Epidemiology Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD) prevalence is unknown. It occurs more often in adult women (approximately 75% of reported cases). Clinical description WCD is characterized by single or multiple, tender or painful edematous and often erythematous subcutaneous nodules (1-2 cm large, most often affecting the lower extremities) healing with a depressed scar. The upper extremities, buttocks, abdominal wall, breasts, and face can also be involved.
Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat ( panniculitis ). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health ( malaise ), muscle pain, and/or abdominal pain. These symptoms may subside after a few days or weeks and may recur weeks, months, or years later. The exact cause of nodular nonsuppurative panniculitis is unknown.
Folliculitis nares perforans is characterized by small pustules near the tip of the inside of the nose, lesions that become crusted, and when the crust is removed it is found that the bulbous end of the affected vibrissa is embedded in the inspissated material. [1] : 774 See also [ edit ] Skin lesion References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . This condition of the skin appendages article is a stub . You can help Wikipedia by expanding it . v t e
Clinical Features Sifrim et al. (2016) reported 3 unrelated children with a syndrome associated with congenital heart defects. ... The patients were ascertained from a cohort of 518 trios in which a child with syndromic congenital heart defects underwent exome sequencing.
However, there are two possible causes of the corneal inflammatory response: an infection and/or an immunological response, such as a hypersensitivity type reaction, or (rarely) Cogan syndrome. [1] Infectious causes include syphilis (commonest), followed by other bacterial infections ( TB , Leprosy and Lyme disease ) and parasitic infections ( Acanthamoeba , Onchocerciasis or river blindness , Leishmaniasis , Trypanosoma cruzi or Chagas disease , Trypanosoma brucei or African sleeping sickness and microsporidia) [2] Pathophysiology [ edit ] The corneal scarring is the end result of the initial invasion of blood vessels into the corneal stroma as part of the inflammatory response. ... However, residual scarring cannot be avoided which can result in long term visual impairment and corneal transplantation is not suitable due to high rejection rate from the corneal vascularization. [4] History [ edit ] Previous long-standing eye infection which possibly during childhood time recalled as being treated with antibiotic and/or hospitalized over long period of time. [ citation needed ] References [ edit ] ^ Ramachandran, Tarakad. "Cogan Syndrome" . Medlink . MedLink Corporation .
Volume 2: 112-114. v t e Electrolyte imbalances Sodium High Salt poisoning Low Hypotonic Isotonic Cerebral salt-wasting syndrome Potassium High Low Chloride High Low Calcium High Low Symptoms and signs Chvostek sign Trousseau sign Milk-alkali syndrome Disorders of calcium metabolism Calcinosis ( Calciphylaxis , Calcinosis cutis ) Calcification ( Metastatic calcification , Dystrophic calcification ) Familial hypocalciuric hypercalcemia Phosphate High Low Magnesium High Low This medical sign article is a stub .
Specialty Neurology Frontotemporal dementia and parkinsonism linked to chromosome 17 ( FTDP-17 ) is an autosomal dominant neurodegenerative tauopathy and Parkinson plus syndrome . [1] FTDP-17 is caused by mutations in the MAPT (microtubule associated protein tau ) gene located on the q arm of chromosome 17 , and has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. ... References [ edit ] ^ Mitra K, Gangopadhaya PK, Das SK. (Jun 2003). "Parkinsonism plus syndrome--a review". Neurology India . 51 (2): 183–8.