Etiology Permanent CH has a variety of primary, secondary and peripheral causes and may occur as part of a syndrome (primary, secondary, peripheral or syndromic hypothyroidism; see these terms). ... Peripheral hypothyroidism may also be caused by defects in thyroid hormone transport, such as in Allan-Herndon-Dudley syndrome (see this term) where X-linked peripheral hypothyroidism is associated with intellectual deficiency and neurologic abnormalities including quadriplegia. Permanent CH may also be associated with a syndrome such as Pendred or Bamforth syndromes among others (see these terms).
Microcephaly lymphoedema chorioretinal dysplasia Other names MLCRD syndrome Microcephaly lymphoedema chorioretinal dysplasia is a genetic condition associated with: Small head ( Microcephaly ) Puffy feet ( Lymphoedema ) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina ) In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al. 1995, Limwongse et al. 1999, Casteels et al. 2001) Children have also been seen with two of the above features: Microcephaly and lymphoedema Microcephaly and chorioretinal dysplasia with or without intellectual disability Contents 1 Presentation 2 Genetics 3 Diagnosis 4 References 5 External links Presentation [ edit ] The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005) Genetics [ edit ] The former (microcephaly and lymphoedema) has been described as an autosomal dominant (MIM 156590) or X-linked trait , while the latter (microcephaly and chorioretinal dysplasia) has been described as autosomal dominant, autosomal recessive (MIM 251270 or Mirhosseini-Holmes-Walton syndrome ) or X-linked trait. Diagnosis [ edit ] This section is empty. ... Feingold M, Bartoshesky L (1992) Microcephaly, lymphoedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet; 43:1030-1031. 2. ... Clin Genet; 48:131-133 4.Limwongse C, Wyszynski RE, Dickerman LH, Robin NH (1999) Microcephaly-lymphoedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. ... Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol.; 85(4):499-500 6.Crowe CA, Dickerman LH (1986).
See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. ... Hordijk et al. (1996) described a father and son with this syndrome. In addition to the usual manifestations, both had microcornea and overgrowth of the conjunctiva over the corneoscleral junction. ... He also had short stature, a feature that had not been described as part of this syndrome, even though it was present in 1 patient reported by Fryns et al. (1995). ... Vasudevan et al. (2005) stated that these cases support the hypothesis of a characteristic facial phenotype in MLCRD syndrome. Mirzaa et al. (2014) reported 5 unrelated patients with MCLMR. ... Ostergaard et al. (2012) concluded that the MLCRD and CDMMR syndromes should be considered a single entity with variable clinical features.
Differential diagnosis Differential diagnoses include the other forms of OCA and X-linked recessive ocular albinism (XLOA) as well as syndromes with albinism as a feature, such as Hermansky-Pudlak syndromes 1-11, Chediak-Higashi syndrome, Griscelli syndromes 1-3, and Waardenburg syndrome type II.
Differential diagnosis Differential diagnoses include the other forms of OCA and X-linked ocular albinism (XLOA) as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndromes 1-11, Chediak-Higashi syndrome, Griscelli syndromes 1-3, and Waardenburg syndrome type II.
Van Dorp (1987) also concluded that patients with X-linked ocular albinism (300500, 300600) may be generally underpigmented and that patients with the Hermansky-Pudlak syndrome (203300) may have a dark complexion. ... Jay et al. (1982) tabulated the frequency of different types of albinism in England: tyrosine-negative OCA, 54; tyrosinase-positive OCA, 50; yellow mutant OCA, 7; Hermansky-Pudlak syndrome, 2; X-linked ocular albinism hemizygotes, 21, and heterozygotes, 15; autosomal recessive ocular albinism, 16. In surveying congenital anomaly syndromes in a Spanish gypsy population, Martinez-Frias and Bermejo (1992) found an impressive frequency of albinism. ... Gardner et al. (1992) demonstrated that the human homolog of the mouse p mutation is a gene located on 15q11.2-q12, a region associated with Prader-Willi syndrome (176270) and Angelman syndrome (105830); see 203200.
Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Oculocutaneous albinism type I Other names OCA1A or OCAIA Oculocutaneous albinism type I or type 1A [1] is an autosomal recessive skin disease . This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11 , long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1. References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 203100 External links [ edit ] Classification D ICD - 10 : E70.3 OMIM : 203100 MeSH : C537729 External resources Orphanet : 352731 This genetic disorder article is a stub . You can help Wikipedia by expanding it . v t e
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. ... Differential diagnosis Differential diagnosis includes other multiple congenital anomalies/intellectual deficit syndromes such as Trisomy 8p (see this term), in particular those with a 8p21-p22 duplication.
A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.
Degenerative diseases: amyotrophic lateral sclerosis , syringobulbia , Wolfram syndrome Inflammatory/infective: Guillain–Barré syndrome , poliomyelitis , Lyme disease Malignancy: brain-stem glioma , malignant meningitis Toxic: botulism , venom of bark scorpion (species Centruroides ), [2] some neurotoxic snake venoms [3] Autoimmune: myasthenia gravis Diagnosis [ edit ] Differential diagnosis [ edit ] In contrast, pseudobulbar palsy is a clinical syndrome similar to bulbar palsy but in which the damage is located in upper motor neurons of the corticobulbar tracts in the mid-pons (i.e., in the cranial nerves IX-XII), that is the nerve cells coming down from the cerebral cortex innervating the motor nuclei in the medulla. ... Archived from the original on 2011-04-27. ^ http://www.us.elsevierhealth.com/wilderness-medicine-9781437716788.html [ permanent dead link ] ^ http://www.us.elsevierhealth.com/wilderness-medicine-9781437716788.html [ permanent dead link ] v t e Cranial nerve disease Olfactory Optic Oculomotor Oculomotor nerve palsy Trochlear Trochlear nerve palsy Trigeminal Trigeminal neuralgia Abducens Abducens nerve palsy Facial Central facial palsy Facial nerve paralysis Bell's palsy Vestibulocochlear Glossopharyngeal Vagus Accessory Accessory nerve disorder Hypoglossal Combined syndromes Bulbar palsy Jugular foramen syndrome Cavernous sinus thrombosis External links [ edit ] Classification D ICD - 10 : G12.2 ICD - 9-CM : 335.22 OMIM : 211530 MeSH : D010244 DiseasesDB : 16043
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-10 (LCCS10) is caused by homozygous mutation in the NEK9 gene (609798) on chromosome 14q24. For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). Clinical Features Casey et al. (2016) studied 2 Irish Traveller families with a recessive lethal skeletal dysplasia.
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. ... Psychomotor development is usually normal, but cases with mild to severe intellectual deficit are reported. Etiology The syndrome is caused by exposure during the first trimester of pregnancy to aminopterin or MTX, two folate antagonists. ... Differential diagnosis Differential diagnosis includes various genetic diseases presenting with one of the following signs: anomalies of the developing calvaria, micrognathia with cleft palate (including Pierre Robin syndrome - see this term), limb reduction defects and hand/feet anomalies. An "aminopterin syndrome sine aminopterin (ASSA) syndrome" (see this term) has been described..
A number sign (#) is used with this entry because of evidence that congenital heart defects and skeletal malformations syndrome(CHDSKM) is caused by heterozygous mutation in the ABL1 gene (189980) on chromosome 9q34. Description Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood.
For example: in DORV with a subaortic VSD, blood from the LV flows through the VSD to the aorta and blood from the RV flows mainly to the pulmonary artery, yielding physiology similar to ventricular septal defect in DORV with a subpulmonic VSD (called Taussig-Bing syndrome ), blood from the LV flows through the VSD to the pulmonary artery and blood from the RV flows mainly to the aorta, yielding physiology similar to Transposition of the Great Arteries but if there is pulmonic stenosis in addition, physiology resembles Tetralogy of Fallot in other forms of DORV, blood from both ventricles is substantially mixed in the RV, yielding physiology that resembles a large VSD but again, if there is pulmonic stenosis , physiology resembles Tetralogy of Fallot Treatment [ edit ] DORV is treated with surgery. ... External links [ edit ] Classification D ICD - 10 : Q20.1 ICD - 9-CM : 745.11 OMIM : 217095 MeSH : D004310 DiseasesDB : 32215 External resources MedlinePlus : 007328 eMedicine : ped/2509 ped/2508 Orphanet : 3426 v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
A number sign (#) is used with this entry because tyrosinemia type III (TYRSN3) is caused by homozygous or compound heterozygous mutation in the HPD gene (609695), encoding 4-hydroxyphenylpyruvate dioxygenase, on chromosome 12q24. Heterozygous mutation in the HPD gene can cause hawkinsinuria (140350). Description Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). Clinical Features Giardini et al. (1983) described tyrosinemia without liver dysfunction due apparently to deficiency of 4-hydroxyphenylpyruvate dioxygenase (4HPPD).
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. Epidemiology It is the least frequent form of tyrosinemia (see this term) with less than 20 cases reported in the literature so far. Clinical description The clinical picture is highly variable ranging from asymptomatic in patients identified through neonatal screening program studies to patients with neurologic manifestations including intellectual deficit and ataxia. Etiology Tyrosinemia type 3 is caused by mutations in the HPD gene (12q14-qter) encoding 4-hydroxyphenylpyruvate dioxygenase. Genetic counseling Tyrosinemia type 3 is transmitted as an autosomal recessive trait Management and treatment Despite the variable clinical picture, patients with tyrosinemia type 3 are recommended to follow a phenylalanine- and tyrosine-restricted diet.
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-10 (CSS10) is caused by heterozygous mutation in the SOX4 gene (184430) on chromosome 6p22. Description Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. ... For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Zawerton et al. (2019) reported 4 patients with global developmental delay, mild to severe intellectual disability, similar facial dysmorphism with anteverted nares, wide mouth with cupid bow, posteriorly rotated ears, and fifth finger clinodactyly.
Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. The symptoms of this condition include low sodium ( hyponatremia ), too much potassium ( hyperkalemia ), and a condition where the body produces too much acid ( metabolic acidosis ). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal blood pressure. Hypoaldosteronism may be described as hyporeninemic (low renin level) or hyperreninemic (high renin level) based on the amount of another chemical produced in the kidneys called renin. Hypoaldosteronism can be caused by other health conditions or medications.
Contents 1 Etiology 1.1 Congenital Syndromes 1.2 Acquired disorders 1.3 Drugs 2 Diagnosis 3 See also 4 References Etiology [ edit ] There are several causal agents for this disorder; these can be divided into three main categories and include the following: [4] Congenital Syndromes [ edit ] Oliver–McFarlane syndrome Cornelia de Lange Syndrome Cone-rod dystrophy Tetralogy of Fallot Hermansky–Pudlak syndrome Goldstein Hutt Syndrome Phylloid hypomelanosis Acquired disorders [ edit ] Areata alopecia Connective tissue disorders , such as Lupus Dermatomyositis Hen fever Atopic dermatitis HIV/AIDS Renal metastatic Adenocarcinoma Eating disorders , such as Anorexia nervosa Pregnancy Drugs [ edit ] Prostaglandin analogues Cetuximab Bimatoprost , Latanoprost Phenytoin Minoxidil Ciclosporin Topiramate Streptomycin Systemic corticosteroids Penicillamine Diagnosis [ edit ] This section is empty.
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
A number sign (#) is used with this entry because of evidence that trichomegaly (TCMGLY) is caused by homozygous mutation in the FGF5 gene (165190) on chromosome 4q21. Clinical Features Unusually long eyelashes is a morphologic trait which is observed in multiple relatives and has been reported in association with a variety of medical problems as indicated by Goldstein and Hutt (1972). They found it with cataract in a brother and sister who also had hereditary spherocytosis. Gray (1944), who appears to have coined the term 'trichomegaly,' reported the trait in father and daughter. Harrison and Mullaney (1997) observed an 18-month-old girl with marked elongation of the eyelashes and corneal irritation.