For a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 (184450). Clinical Features Raza et al. (2010) reported a consanguineous Pakistani family in which 5 individuals above 8 years of age had persistent stuttering for more than 6 months.
For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 (613339). Clinical Features Ratnapriya et al. (2009) reported a 4-generation family from southern India in which 10 individuals had hot water epilepsy.
For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165). Clinical Features Li et al. (2008) described a large 6-generation Chinese pedigree segregating 'congenital simple microphthalmia' in an autosomal dominant pattern.
Clinical Features Irshad et al. (2005) reported a consanguineous Pakistani family with nonsyndromic deafness segregating as an autosomal recessive trait.
Evidence for linkage also emerged for loci on 16q24.1-q24.2 and 20q13.11, the latter representing a region to which type II diabetes (125853) has been mapped (NIDDM3; 603694). Low HDL cholesterol is a common feature in type II diabetes.
Clinical Features Mustapha et al. (1998) reported a large consanguineous Lebanese family affected with a prelingual profound sensorineural isolated form of deafness.
Clinical Features Reid et al. (1998) reported 4 individuals from 2 generations of a family who had recurrent episodes of parotitis beginning in childhood and, in the only adult at the time of report, remitting at the age of 14 years.
Tada et al. (1963) described a 9-year-old girl with dwarfism, mental defect, cutaneous photosensitivity, and gait disturbance resembling cerebellar ataxia. The clinical features resembled Hartnup disease (234500) but the chemical findings were different.
Clinical Features Pollock and Kies (1990) described a New Zealand family in which 3 sisters suffered from late-onset cerebellar ataxia distinguished from other forms by the development of nearly global thermoanalgesia.
Clinical Features The anecdotal reports among physicians that some practitioners were unable to smell acetone on the breath of patients suffering from ketosis prompted Forrai et al. (1970) to study the olfactory thresholds for detecting the odor of acetone and methylethylketone (MEK).
Clinical Features Hefter and Ganz (1969) described a woman and 3 of her 4 children with atresia of the external auditory canal and conductive deafness.
A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.
AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders.
Kjellstrom et al. (1979) reported the cases of acute monocytic leukemia in 2 brothers in 1 family and in 3 persons in 3 generations of another family (grandfather, grandson, and paternal aunt of the latter). Inheritance - Autosomal dominant somatic cell mutation Heme - Acute monocytic leukemia ▲ Close
Acute monocytic leukemia Specialty Hematology , oncology Acute monocytic leukemia ( AMoL , or AML-M5 ) [1] is a type of acute myeloid leukemia . Contents 1 Causes 2 Diagnosis 3 Treatment 4 References 5 External links Causes [ edit ] M5 is associated with characteristic chromosomal abnormalities , often involving chromosome 11 , such as t(9;11), affecting the MLL (KMTA2) locus at 11q23; however MLL translocations are also found in other leukemia subtypes. The t(8;16) translocation in AMoL is associated with hemophagocytosis . Secondary leukaemia, which may include AML-M5, has been associated with exposure to epipodophyllotoxins , such as etoposide . [2] Diagnosis [ edit ] In order to fulfill World Health Organization (WHO) criteria for AML-5, a patient must have greater than 20% blasts in the bone marrow , and of these, greater than 80% must be of the monocytic lineage. A further subclassification (M5a versus M5b) is made depending on whether the monocytic cells are predominantly monoblasts (>80%) (acute monoblastic leukemia) or a mixture of monoblasts and promonocytes (<80% blasts).
Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by Rios et al., 2013). Clinical Features One or 2 fingers are grotesquely enlarged.
The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord.
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. Epidemiology The incidence and prevalence of IFD are unknown. Fewer than 100 cases have been reported in the literature and fewer than 50 cases have been confirmed molecularly. Clinical description The disease usually manifests before the age of 5 but patients in their 10th and 30th decade of life have also been reported. It manifests with failure to thrive and symptoms of anemia (e.g. asthenia, weakness, headache, infections). If untreated, neurological damage may occur such as peripheral neuropathy, subacute combined degeneration of the spinal cord and/or ataxia.
See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). Clinical Features Cases of childhood pernicious anemia have been reported in which, although the gastric mucosa was histologically normal, intrinsic factor was lacking from the acid gastric juice.
Intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet. Intrinsic factor deficiency is caused by changes (mutations) in the GIF gene and is inherited in an autosomal recessive manner. Treatment generally consists of vitamin B12 injections.
Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome .
The initial signs and symptoms include headache and recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction.
Clinical Features Chung et al. (2003) described an extensive, 4-generation African American family, residing in western Pennsylvania, with an autosomal dominant nephropathy.
Inheritance is autosomal dominant. Congenital microcoria is also a feature of autosomal recessive Pierson syndrome , caused by mutations in the LAMB2 gene.
Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995). Clinical Features Ardouin et al. (1964) described a family in which 25 persons had small pupils due apparently to hypoplasia of the dilator muscle of the iris.
Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Microcoria" – news · newspapers · books · scholar · JSTOR ( December 2009 ) ( Learn how and when to remove this template message ) Microcoria Specialty Ophthalmology Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in diameter. Microcoria is associated with juvenile-onset glaucoma . It is also associated with Pierson syndrome chararacterized by microcoria and congenital nephrotic syndrome . The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane. [1] It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia. [ citation needed ] Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia. Congenital microcoria is an autosomal dominant trait. However, it can also occur sporadically.
Clinical description At birth, clinical features are similar to those of classical EI with erythroderma, blistering and superficial skin erosions at sites of minor trauma.