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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.[ncbi.nlm.nih.gov] Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues.[ncbi.nlm.nih.gov] These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

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

  • Laurence Moon Syndrome

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

  • SHORT Syndrome

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

  • Mowat-Wilson Syndrome

    stature, and genitourinary anomalies.[ncbi.nlm.nih.gov] 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[specialeducationalneeds.co.uk] 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[contact.org.uk]

  • Aspartylglucosaminuria

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

  • 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[handresearch.com] The condition is characterized by dysmorphic features, growth deficiencies, speech delays, and mental retardation.[cags.org.ae] Clinical findings of del(18p) include growth deficiency, variable degrees of mental retardation, muscular hypotonia, speech delay, craniofacial dysmorphism (holoprosencephaly[ashg.org]

  • Sjogren-Larsson Syndrome

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

  • Mucopolysaccharidosis

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

  • Deletion of the Long Arm of Chromosome 18

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

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