Create issue ticket

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.[] He is developmentally delayed and has just commenced “bum shuffling.” There is also intellectual and speech delay, short stature, but no hearing impairment.[] Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental[]

  • Jeune Syndrome

    Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life.[] speech and language development Deficiency of speech development Delayed speech development Delayed speech acquisition Delayed speech Delayed language development Speech[] 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.[]

  • 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.[]

  • Choanal Atresia

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

  • 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,[] delay and 52% had learning difficulties, but only 22% required special education.[] Noonan syndrome (NS) is a common autosomal dominant condition characterized by short stature, congenital heart defects, and dysmorphic facial features caused in approximately[]

  • 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[] 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[] delay, facial dysmorphology, and level of mental retardation (MR).[]

  • Hypopituitarism

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

  • Severe Combined Immunodeficiency

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

  • 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[]

  • Muckle Wells Syndrome

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

Further symptoms

Similar symptoms