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1,687 Possible Causes for Short Stature, Speech Delay

  • Osteoporosis-Pseudoglioma Syndrome

    The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs.[ncbi.nlm.nih.gov] He is developmentally delayed and has just commenced “bum shuffling.” There is also intellectual and speech delay, short stature, but no hearing impairment.[bjo.bmj.com] Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental[orpha.net]

  • Jeune Syndrome

    Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life.[ncbi.nlm.nih.gov] speech and language development Deficiency of speech development Delayed speech development Delayed speech acquisition Delayed speech Delayed language development Speech[rarediseases.info.nih.gov] The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly.[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]

  • Choanal Atresia

    Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.[ncbi.nlm.nih.gov] In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described.[ncbi.nlm.nih.gov]

  • Juvenile Myelomonocytic Leukemia

    Recently, germline mutations of NRAS have been shown to be associated with Noonan syndrome (NS), a relatively common developmental disorder characterized by short stature,[ncbi.nlm.nih.gov] delay and 52% had learning difficulties, but only 22% required special education.[ncbi.nlm.nih.gov] Noonan syndrome (NS) is a common autosomal dominant condition characterized by short stature, congenital heart defects, and dysmorphic facial features caused in approximately[ncbi.nlm.nih.gov]

  • Cri Du Chat Syndrome

    […] neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 5%-29% of people[rarediseases.info.nih.gov] Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with[ncbi.nlm.nih.gov] delay, facial dysmorphology, and level of mental retardation (MR).[ncbi.nlm.nih.gov]

  • Hypopituitarism

    This association might be important as short stature in children with sacral agenesis is usually attributed to mechanical factors.[ncbi.nlm.nih.gov] However, the patient was found to have hearing loss, gross motor delay, and speech delay.[ncbi.nlm.nih.gov] On routine follow-up she was noted to be developing short stature.[ncbi.nlm.nih.gov]

  • Severe Combined Immunodeficiency

    stature, endocrinopathies, and dental aplasia.[ncbi.nlm.nih.gov] […] due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions[ncbi.nlm.nih.gov] LA COPII EVALUATION OF SHORT STATURE ETIOLOGY IN CHILDREN CONFERENTIAR UNIVERSITAR DR.[congrespediatrie2015.ro]

  • 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]

  • Muckle Wells Syndrome

    He had short stature, short neck, urticarial rash, conjunctival congestion, clubbing, bilateral papilledema and bilateral sensorineural hearing loss.[jpgmonline.com] Of note, the patient's history was significant for conductive hearing loss, speech delay, as well as recurrent acute otitis media episodes.[ncbi.nlm.nih.gov] stature, forehead prominence, flattening of the nasal bridge or papilloedema (swelling of the optic disc in the eye).[dermnetnz.org]

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