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1,238 Possible Causes for Short Stature, Speech Delay

  • Smith-Magenis Syndrome

    To our knowledge, the association of GH deficiency with SMS has never been reported and rarely investigated, despite the very short stature of SMS patients.[] Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues.[] These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections[]

  • Dubowitz Syndrome

    Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly, mild mental retardation[] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[]

  • Laurence Moon Syndrome

    Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful. Speech therapy. Renal opinion.[] Speech delay and deficit . Ataxia with spastic paraplegia. Renal anomalies - eg, clubbing, diverticula or calyceal cysts.[] delay, learning disability , short stature, kidney disease, type 2 diabetes, polydactyly (extra fingers), obesity, weakness of the legs, and reproductive issues (including[]

  • SHORT Syndrome

    Hyperphagic short stature is associated with learning disabilities.[] Intellectual development and cognition are usually unaffected although mild impairment with speech delay has been reported.[] Abstract We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature.[]

  • Mowat-Wilson Syndrome

    stature, and genitourinary anomalies.[] Symptons may include: Growth and Motor development delay : speech can be delayed or absent; Seizures in the majority of individuals ( Epilepsy ); Failure to thrive in early[] Other features that have been observed in individuals with MWS include: growth, and developmental delay - speech can be delayed or absent failure to thrive in early life congenital[]

  • Aspartylglucosaminuria

    The classical aspartylglucosaminuria phenotype (progressive speech delay, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings.[] Initial symptoms may present as clumsiness and/or speech delay. Individuals with AGU also show increased upper respiratory infections.[] Around the age of 2–4 years, they begin showing signs of developmental delay, but development is still progressing.[]

  • Chromosome 18p Deletion Syndrome

    […] by a deletion of the short arm (the p arm) of chromosome 18; typical features include: mental retardation, short stature & short thumbs. 18q- occurs in about 1 of every 40,000[] The condition is characterized by dysmorphic features, growth deficiencies, speech delays, and mental retardation.[] Clinical findings of del(18p) include growth deficiency, variable degrees of mental retardation, muscular hypotonia, speech delay, craniofacial dysmorphism (holoprosencephaly[]

  • Sjogren-Larsson Syndrome

    Less common features are retinal changes, short stature, kyphoscoliosis, preterm birth, photophobia, reduction of visual acuity, seizures, and delayed speech.[] Other characteristic features are delayed motor development due to spastic diplegia or tetraplegia, mental retardation, speech delay, short stature, and seizures.[] Additional signs include short stature, epilepsy, retinal abnormalities and photophobia.[]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] […] developmental/speech delay, attention deficit/hyperactivity disorder or autism.[] He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.[]

  • Deletion of the Long Arm of Chromosome 18

    Recent research has uncovered potential treatment for short stature and dysmyelination caused by 18q-.[] In particular, vocabulary and the production of speech (expressive language skills) may be delayed.[] Characteristic clinical features include short stature, mental retardation, hypotonia, facial and distal skeletal abnormalities.[]

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