Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection. [ncbi.nlm.nih.gov]

CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection. [mct8.info]

infections Respiratory failure Micropenis Hypoplasia of the brainstem Respiratory insufficiency Congenital sensorineural hearing impairment Protruding ear Triangular face Postural instability Nephrolithiasis Nephrocalcinosis Hydrops fetalis Calcinosis [mendelian.co]

Recurrent infections, hypotonia, and mental retarda- tion caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118, e1687e1695. 44. [vdocuments.net]

respiratory infections Recurrent infections Respiratory failure Micropenis Hypoplasia of the brainstem Respiratory insufficiency Congenital sensorineural hearing impairment Protruding ear Triangular face Postural instability Nephrolithiasis Nephrocalcinosis [mendelian.co]

Approximately 75% also have recurrent respiratory infections. [ncbi.nlm.nih.gov]

Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection. [ncbi.nlm.nih.gov]

CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection. [mct8.info]

Side effects range from heart rhytym irregularities and aspiration due to avid suckling. In the case of overtreatment, craniosyntosis or a change in skull growth pattern can occur before the baby’s brain is completely formed. [thyroidbasics.com]

May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration [rgd.mcw.edu]

All affected siblings presented with classic findings of Allan-Herndon-Dudley syndrome, and each of the siblings also developed intermittent esotropia. [ncbi.nlm.nih.gov]

Cup-shaped ears, thickening of the nose and ears, upturned earlobes, and a decrease in facial creases are also reported. Neuromuscular. Truncal hypotonia persists into adulthood. [ncbi.nlm.nih.gov]

This group of affected siblings represents the first consistent documentation of strabismus in Allan-Herndon-Dudley syndrome, suggesting a possible association between this clinical finding and the neurologic syndrome. [ncbi.nlm.nih.gov]

This patient had a classic AHDS phenotype with an unexpectedly large anterior fontanel and delayed bone age and dentition. [ncbi.nlm.nih.gov]

Allan-Herndon-Dudley syndrome (AHDS), an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high serum [ncbi.nlm.nih.gov]

Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8 [ncbi.nlm.nih.gov]

Dudley William Allan An X-linked mental retardation/multiple congenital anomaly syndrome characterized by psychomotor retardation, long thin face, severe hypotonia, joint contractures, and hyporeflexia. Male. Normal at birth but for hypotonia. [whonamedit.com]

The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. [mendelian.co]

As adults, affected individuals may have generalized muscular wasting (atrophy), permanent fixation of multiple small and large joints in various fixed postures (joint contractures) and/or decreased reflex reactions (hyporeflexia). [rarediseases.org]

Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed. [ncbi.nlm.nih.gov]

Indeed, heart rate and SHBG declined significantly in all four children, whereas cholesterol increased in two and ferritin declined in one. [doi.org]