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356 Possible Causes for Hypertelorism, Rarely Malignant, Short Stature in Children

  • 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.[] Stature Idiopathic Short Stature Idiopathic short stature (ISS) is a term used when your child is very short compared with other children of the same age and there is no[]

  • 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[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[] In addition to fused sutures, children with Saethre Chotzen syndrome also have a characteristic low-set hairline, a “beaked” nose and short stature.[]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[] Stature on Children and Adolescents » Download a printable version of the Frequently Asked Questions when Beginning Growth Hormone Therapy brochure » Click here for member[]

  • 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.[] Many children develop a short body trunk and a maximum stature of less than 4 feet.[] Only 2 pathogenic variants have been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] Short stature as the major manifestation of celiac disease in older children. Clin Pediatr 1986; 25:13–6. 12. Rossi TM, Kumar V, Lerner A, et al.[] This is in contrast to previous observations among both children and adults with hypothyroidism, in whom a female preponderance was found. 20 A short stature is one of the[]

  • Growth Failure

    […] lympho-reticular malignancies, significant microcephaly, and radiation hypersensitivity.[] (A) Lateraland (B) frontal views of the face of the boy at 5 years of age show medialeyebrow flare, wide nasalbridge, hypertelorism, epicanthal folds, broad nasal tip with[] […] lead to short stature.[]

  • 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.[] Abstract Aarskog syndrome is a familial condition associated with craniofacial anomalies, genital malformations and short stature.[]

  • 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[] Rarely, coronary artery aneurysms are identified in symptomatic or even asymptomatic individuals with NF1. [14] Short stature is common in NF1; affected individuals are often[] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[]

  • Freeman-Sheldon Syndrome

    Malignant hyperthermia Malignant hyperthermia or MH is a very rare severe problem which is normally activated by contact to certain medications used for general anesthesia[] […] facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism[] FSS is characterized by a "mask-like" face with a prominent forehead, hypertelorism, microstomia with pouting lips resembling a whistling mouth, midface hypoplasia, blepharophimosis[]

  • 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[] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[] Clinical Correlations: Children with this syndrome have small heads (microcephaly) and generalized growth delay manifest as short stature.[]

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