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436 Possible Causes for Delayed Milestone, Hypertelorism, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[] milestones Mean age sitting 10 mth, walking 21 mth, two-word sentence 31 mth 10-15 % require special ed IQ usually within normal range, but mild MR seen in 1/3 Verbal lower[]

  • 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.[] However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[] Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study[] If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking.[]

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[] No history suggestive of delayed mental or motor milestones of development was encountered. No history suggestive of seizures or hearing difficulty was reported. 2.1.[] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[]

  • 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[] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[] Individuals diagnosed with the condition have delayed growth spurts (periods of rapid increase in baby growth – in height/weight) and delayed developmental milestones.[]

  • Gorlin Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[] Large head size may also contribute to some delay in motor milestones, although as yet there is no psychometric evidence for more global delay. Birth defects.[]

  • Velocardiofacial Syndrome

    (rare) Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal[] The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia[] Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient.[]

  • 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[] Signs of increased intracranial pressure may include irritability in infancy, delayed developmental milestones, headaches in older children, visual changes, and lethargy ([] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[]

  • Singleton Merten Syndrome

    Jan 30th, 2019 - Aleukemic leukemia cutis (ALC) is an extremely rare cutaneous manifestation of an aggressive systemic hematological malignancy, associated with dermal infiltration[] Notably, developmental milestones are usually timely although mild cognitive delays are rarely seen and speech may be delayed. Inguinal hernias are part of the syndrome.[] […] deficiency, cleft lip and palate, cleft palate alone, median cleft lip, midface deficiency, mandibular prognathism, long anterior facial height, facial asymmetry, ocular hypertelorism[]

  • Roifman Syndrome

    Although PID seem to be rare, the number of patients diagnosed has increased in recent years, and more than 150 different forms of PID have been identified.[] BEARE-STEVENSON SYNDROME Proptosis, hypertelorism, downslanting palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds[] […] involves a chronological delay in the appearance of normal developmental milestones achieved during infancy and early childhood.[]

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