A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina).
Clinical Features Berkenstadt et al. (1988) described partial duplication of the eyebrows with other anomalies in a 7-year-old son of parents related as half sibs. (They were called first cousins; however, they were the offspring of identical twins). The boy was of normal intelligence. There was excess hair on the forehead and long eyelashes as well as excessive wrinkling of the periorbital skin when the eyes were closed. He had bilateral syndactyly involving the second to the fourth fingers and the second and third toes. The skin was excessively stretchable on the face and chest. There was no joint hypermobility.
Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue.
Description The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. ... Josso and Briard (1980) supported the suggestion that a more appropriate term would be embryonic testicular regression syndrome. They observed two 46,XY sibs with variable degrees of sexual ambiguity. ... De Grouchy et al. (1985) reported a Tunisian sibship of 10 that contained 3 XY sibs with the testicular regression syndrome and severe mental retardation. ... Parisi et al. (2002) noted that the phenotype of these 3 patients was reminiscent of testicular regression syndrome, but stated that patients with testicular regression syndrome have elevation of serum concentrations of both LH and FSH.
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss.
Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly.
A number sign (#) is used with this entry because of evidence that bone marrow failure syndrome-2 (BMFS2) is caused by homozygous mutation in the ERCC6L2 gene (615667) on chromosome 9q22. Description Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. ... Clinical Features Tummala et al. (2014) reported 2 unrelated patients, each born of consanguineous parents, with a bone marrow failure syndrome. The patients presented at ages 12 and 19 years, respectively. ... Molecular Genetics By exome sequencing of 2 unrelated patients with bone marrow failure syndrome, Tummala et al. (2014) identified 2 different homozygous truncating mutations in the ERCC6L2 gene (R655X, 615667.0001 and c.1236_1239del, 615667.0002). ... By linkage analysis and whole-exome sequencing in an adolescent male with bone marrow failure syndrome, Zhang et al. (2016) identified homozygosity for the previously reported R655X mutation in the ERCC6L2 gene.
Classic Vohwinkel syndrome (VOWNKL; 124500) is caused by mutation in the gene for connexin-26 (GJB2; 121011). A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066). Clinical Features Maestrini et al. (1996) studied a large kindred with a variant form of Vohwinkel syndrome without hearing loss, associated with ichthyosiform dermatosis. ... Korge et al. (1997) studied 2 families, one with typical Vohwinkel syndrome, including starfish keratoses and deafness, and the other with the variant form of Vohwinkel keratoderma. They demonstrated that the classic and variant forms of Vohwinkel syndrome are clinically and ultrastructurally distinct and that the classic form does not map to the loricrin locus.
Camisa disease Other names Vohwinkel variant with ichthyosis This condition is inherited in an autosomal dominant manner Specialty Dermatology Camisa disease is the variant form of Vohwinkel syndrome , characterized by ichthyosis and normal hearing. [1] : 507,513 It is associated with loricrin . [2] [3] It was characterized in 1984 [4] and 1988. [5] See also [ edit ] Palmoplantar keratoderma Keratoderma List of cutaneous conditions References [ edit ] ^ Freedberg, et al. (2003). ... "Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin" .
Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( August 2017 ) Tea and toast syndrome is a form of malnutrition commonly experienced by elderly people who are unable to prepare meals and tend to themselves. Their diets often dwindle to tea and toast resulting in a deficiency of vitamins and other nutrients. [1] The syndrome often manifests itself as hyponatremia , a low concentration of the electrolyte sodium in the bloodstream, due to the lack of salt in the diet. Contents 1 Causes 2 Diagnosis 3 Treatment 4 See also 5 References Causes [ edit ] The syndrome often occurs once children have moved away, and a partner has died or is dying. ... Treatment [ edit ] Treatment of tea and toast syndrome is centered primarily around resolving hyponatremia. ... "The Tea and Toast Syndrome: Psychosocial Aspects of Congregate Dining".
A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.
Nguyen et al. (2003) noted that the phenotype resembled that of Smith-Lemli-Opitz syndrome (SLOS; 270400); biochemical investigations of sterol metabolism revealed profound hypocholesterolemia but no accumulation of 7-dehydrocholesterol precursor, and low LDL cholesterol and apolipoprotein B (107730) levels. ... Nguyen et al. (2003) proposed that the boy's clinical manifestations represented an MCA/MR syndrome with hypocholesterolemia due to autosomal dominant hypobetalipoproteinemia. ... Nakane et al. (2005) concluded that this patient represented a second case of Nguyen syndrome.
Clinical Features Eastman and Bixler (1977) described a seemingly 'new' syndrome of which the major components are horseshoe kidneys, severe mental retardation, characteristic facies (broad nasal bridge, large chin, open mouth), and heart defect (conduction defects, cardiac enlargement, endocardial fibroelastosis). ... Nevin et al. (1991) described this syndrome in a 5-year-old boy who also had isolated growth hormone deficiency which responded successfully to treatment. Inheritance The pattern of transmission in the family with faciocardiorenal syndrome reported by Eastman and Bixler (1977) was consistent with autosomal recessive inheritance.
Description The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). Clinical Features Osebold et al. (1985) described a kindred in which 7 members had a constellation of skeletal anomalies which appeared to constitute a distinct syndrome. The middle phalanges of the hands and feet were hypoplastic or absent. ... Sheffield et al. (1987) pointed to similarities between the Osebold-Remondini syndrome and the mild type of chondrodysplasia punctata, and Osebold (1987) reviewed differences between the two.
In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations.
A group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).
Diagnostic methods Diagnosis is based on the clinical picture and neuropsychological evaluation. The clinical syndrome may be indistinguishable from idiopathic Parkinson disease (PD) in the early stages, although cardiac MIBG scanning may be helpful (normal in PSP-P and abnormal in PD).
Scheuerman et al. (2003) stated that previously described anomalies in acrorenal syndrome included unilateral renal agenesis, duplication of the collecting system, renal hypoplasia leading to renal insufficiency, and vesicoureteral reflux with hydronephrosis. ... Kroes et al. (2004) concluded, however, that the data did not yield evidence for the existence of a distinct syndrome, defined as a pattern of causally related multiple anomalies, and that use of the term 'acrorenal syndrome' should be avoided.
Miltenyi et al. (1992) described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. Miltenyi et al. (1984) described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one.
The hyper-IgG1(A1) syndrome entails a polyclonal selective increase of the serum levels of immunoglobulin G1 and to a lesser extent of IgA1. ... A 32:1 chance for linkage of this rare haplotype with the hyper-IgG1 syndrome in the family was interpreted by Hendriks et al. (1989) as indicating a dominant regulator located at the IgH locus which has a selective influence on the production of IgG1 (147100) and IgA1 (146900). ... Krol-van Straaten et al. (1990), who like Hendriks and colleagues work in the Netherlands, questioned the existence of hyper-IgG1 syndrome as a separate entity. They stated that members of the family were known to their department and that one of them proved to have autoimmune hypothyroidism and a second delivered a baby with congenital heart block.
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. ... Differential diagnosis CS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms).
Approximately 50 families with clinical features of the syndrome have been described to date with mutations in the KIF11 gene reported in 25 families worldwide. ... Congenital heart defects and epilepsy may be rare features of the syndrome. Etiology There is likely to be genetic heterogeneity. ... Individuals with pathogenic mutations in KIF11 have been reported without clinical features of the syndrome demonstrating reduced penetrance.