Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects.
Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia.
Bronspiegel et al. (1985) described an Ashkenazi Jewish boy who at birth had aplasia cutis congenita of the vertex and edema which persisted for 6 months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small intestinal biopsy confirmed the diagnosis of intestinal lymphangiectasia. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A subsequently born brother had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect.
Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions.
Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity.
Nomenclature Horton (1982) agreed that in terms of differential diagnosis this disorder can conveniently be considered a form of the Ehlers-Danlos syndrome; arbitrarily the next number to be assigned is XI.
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years).
Raphaelson et al. (1983) described 2 brothers who had onset of precocious puberty (due to Leydig cell hyperplasia) and spastic paraplegia at the age of 2 years. Both later had moderate mental retardation. Relatives (2 sisters, father, paternal grandfather, paternal half brother) had brisk leg reflexes and dysarthria in a pattern suggesting autosomal dominant inheritance with variable expression. Endocrine - Precocious puberty Neuro - Spastic paraplegia - Mental retardation - Brisk leg reflexes - Dysarthria Lab - Leydig cell hyperplasia Inheritance - Autosomal dominant with variable expression ▲ Close
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus).
Gibson et al. (1993) published a full report on these patients and suggested that the complex is a distinct X-linked syndrome of absent radii and anogenital anomalies.
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose.
Hall et al. (1974) reported 2 brothers with mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose. One had had a 'cervical spinal cyst' removed at age 1 year and the second had occipital cranium bifidum occulatum. The parents were unrelated. They and 3 brothers were normal. INHERITANCE - Autosomal recessive HEAD & NECK Head - Microcephaly Eyes - Eyebrows absent - Glaucoma Nose - Small nose - Beaked nose SKELETAL Skull - Microcephaly - Cranium bifidum Spine - Spinal cyst SKIN, NAILS, & HAIR Hair - Eyebrows absent - Eyelashes absent ▲ Close
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
A number sign (#) is used with this entry because of evidence that Parkinson disease-1 (PARK1) is caused by heterozygous mutation in the alpha-synuclein gene (SNCA; 163890) on chromosome 4q22. See also dementia with Lewy bodies (127750), an allelic disorder with overlapping clinical features. Description Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).
A number sign (#) is used with this entry because Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, is caused by homozygous or compound heterozygous mutation in the FBXO7 gene (605648) on chromosome 22q12. ... Nisipeanu et al. (1994) noted that since no autopsy information was available in their patients to identify precise anatomic involvement, the term 'parkinsonian-pyramidal syndrome' would be more appropriate than 'pallido-pyramidal syndrome.' ... Shojaee et al. (2008) reported a large Iranian family with parkinsonian-pyramidal syndrome. Inheritance was autosomal recessive. ... Mapping Shojaee et al. (2008) performed genomewide linkage analysis of an Iranian family with parkinsonian-pyramidal syndrome using 500 K SNP arrays. The maximum parametric lod score under an autosomal recessive model was 3.39 on chromosome 22q. ... Molecular Genetics In affected members of an Iranian family with parkinsonian-pyramidal syndrome, Shojaee et al. (2008) identified a homozygous mutation in the FBXO7 gene (605648.0001).
Clinical Features Ramsey Hunt (1917) described a disorder with typical parkinsonism beginning in the teens or earlier, with tremor, masklike facies, bradykinesia, dysarthria, and rigidity. Progression was very slow. David B. Clark had seen the disorder in father and daughter (Ford, 1961). The substantia nigra was normal, but degeneration and loss of large cells of the lenticular nuclei occurred. Hunt's second case was the offspring of first cousins. She died at the age of 65 years. Autopsy showed pallidopyramidal disease (PARK15; 260300). Allen and Knopp (1976) observed a family with 3 affected females: the proband, her paternal grandmother, and her sister's daughter.
Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia.
Lisker et al. (1981) described 2 sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, and autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow. Although no sensory abnormality was found, sural nerve biopsy showed nonspecific demyelination. No similar patients were identified in the literature. Neuro - Orthostatic hypotension - Autonomic dysfunction Inheritance - Autosomal recessive Lab - Slow nerve conduction velocity - Nonspecific sural nerve demyelination Skin - Profuse sweating - Distal cyanosis related to cold Muscle - Progressive muscle weakness - Muscle hypotrophy GI - Esophageal achalasia ▲ Close
The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015). ... Amiel et al. (1999) noted shared features with CODAS syndrome, including delayed bone age, epiphyseal dysplasia, and vertebral clefts, as well as midface hypoplasia, anteverted nares, and ear anomalies. However, the sisters did not exhibit other features of CODAS syndrome such as neonatal hypotonia, postnatal growth retardation, mental retardation, and eye and dental anomalies. Amiel et al. (1999) proposed the acronym 'EVE' for this syndrome involving epiphyseal, vertebral, and ear dysplasia. ... Noting similarities to the sisters described by Amiel et al. (1999), Royer-Bertrand et al. (2015) designated this syndrome 'EVEN-plus,' for epiphyseal, vertebral, ear, and nose involvement, plus associated findings.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares).
Post-vasectomy pain syndrome (PVPS) is a chronic and sometimes debilitating genital pain condition that may develop immediately or several years after vasectomy . [1] [2] [3] Because this condition is a syndrome , there is no single treatment method, therefore efforts focus on mitigating/relieving the individual patient's specific pain. [1] [2] [4] [5] When pain in the epididymides is the primary symptom , post-vasectomy pain syndrome is often described as congestive epididymitis . ... "Post Vasectomy Pain Syndrome". Genitourinary Pain And Inflammation . ... "Vasectomy reversal for the post-vasectomy pain syndrome: a clinical and histological evaluation". ... PMID 16263006 . ^ Sinha V, Ramasamy R (May 2017). "Post-vasectomy pain syndrome: diagnosis, management and treatment options" . ... "Vasectomy reversal for treatment of the post-vasectomy pain syndrome". J. Urol . 157 (2): 518–520. doi : 10.1016/S0022-5347(01)65191-7 .
Staphylococcal scalded skin syndrome Other names Pemphigus neonatorum, Ritter's disease, [1] localized bullous impetigo An infant with Staphylococcal scalded skin syndrome Specialty Dermatology Staphylococcal scalded skin syndrome ( SSSS ) is a dermatological condition caused by Staphylococcus aureus . ... It is most common in children under 6 years, but can be seen in adults who are immunosuppressed or have kidney failure . Pathophysiology [ edit ] The syndrome is induced by epidermolytic exotoxins ( exfoliatin ) [2] A and B, which are released by S. aureus and cause detachment within the epidermal layer, by breaking down the desmosomes . ... Although Dukes identified it as a separate entity, it is thought not to be different from scarlet fever caused by staphylococcal exotoxin after Keith Powell proposed equating it with the condition currently known as staphylococcal scalded skin syndrome in 1979. [5] [6] [7] [8] See also [ edit ] List of cutaneous conditions List of conditions caused by problems with junctional proteins References [ edit ] ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). ... "Epidemiology of staphylococcal scalded skin syndrome in Germany". J. Invest. Dermatol . 124 (4): 700–3. doi : 10.1111/j.0022-202X.2005.23642.x . ... PMID 367152 . ^ Melish, ME; Glasgow, LA (June 1971). "Staphylococcal scalded skin syndrome: the expanded clinical syndrome" .
A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.