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886 Possible Causes for Developmental Delay, Hypertelorism, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[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] Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[ncbi.nlm.nih.gov] The case of a 4 year old boy with notable dysmorphic features compatible with Saethre-Chotzen syndrome and severe developmental delay is described.[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental[books.google.de] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[ncbi.nlm.nih.gov] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[ncbi.nlm.nih.gov] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[ncbi.nlm.nih.gov]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma.[mendelian.co] delay.[malacards.org] […] malformation 0001305 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing 0002007 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism[rarediseases.info.nih.gov]

  • Baraitser-Winter Syndrome 1

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] The severity of intellectual disability/developmental delay and presence of seizures correlates with the degree to which neuronal migration defects are evident.[invitae.com] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    This is likely to be an overestimate, biased by failure to report cases without tumors and by over-reporting cases with this rare association.[ncbi.nlm.nih.gov] The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the[ncbi.nlm.nih.gov] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov]

  • Encephalocele

    Both benign and malignant neoplasms are found in this category.Despite the complicated development of the nose, congenital anomalies are rare, with an incidence of one in[clinicaladvisor.com] delay, vision problems, mental and growth retardation, and seizures.[ninds.nih.gov] […] rather than true orbital hypertelorism and the presence of secondary trigonocephaly), careful planning of the bone movements to correct these deformities, and attention to[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

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