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109 Possible Causes for Delayed Female Puberty, Hypertelorism, Rarely Malignant

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] Common ones are short height, absent or delayed puberty, and infertility. Causes Turner syndrome happens in girls and women. Females have two X chromosomes.[cancercarewny.com] […] 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[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] […] genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy[ncbi.nlm.nih.gov]

  • Diabetes Mellitus

    Abstract Werner syndrome is a rare genetic disease characterized by progeria, diabetes mellitus, cataracts and various types of malignancy.[ncbi.nlm.nih.gov] […] presentation, at the gestational age of 35 weeks, weighing 1500 g (intrauterine growth retardation, p At birth: Apgar Score 7, features of down syndrome - epicanthic eye-fold, hypertelorism[ncbi.nlm.nih.gov] We herein report an extremely rare case of Werner syndrome accompanied by adrenal cortex cancer.[ncbi.nlm.nih.gov]

  • Rothmund Thomson Syndrome

    Myelodysplasia and hematologic malignancy are rare. In the absence of malignancy, lifespan is generally normal. For more information, see OMIM .[visualdx.com] […] or absent hair, eyelashes, and eyebrows, forearm reduction defects, small hands with hypoplasia of the middle phalanx (little finger) in one of the probands, epicanthus, hypertelorism[ncbi.nlm.nih.gov] Rothmund-Thomson syndrome (RTS) is a rare disorder with a predisposition for cutaneous and non-cutaneous malignancy.[ncbi.nlm.nih.gov]

  • Cystic Fibrosis

    Osteonecrosis of the jaw has been associated with high‐dose intravenous bisphosphonate therapy in patients with malignancy ( Pendrys 2008 ).[doi.org] Delayed puberty and reduced fertility are other complications; most males are azoospermic because of agenesis of the vas deferens.[emedicine.medscape.com] We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] ., testes in males, ovaries in females) may result in delayed development of secondary sexual characteristics (puberty) in some affected males and females.[rarediseases.org] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Juvenile Myxedema

    They are rarely neoplastic, but rather a metaplasia of the normal glandular elements.[homeoint.org] Children with juvenile hypothyroidism may present with precocious puberty.[flexikon.doccheck.com] Hoarse voice Cardiomegaly Bradycardia Pericardial effusion - usually asymptomatic Failure of fusion of distal femoral epiphyses The growing child will have short stature, hypertelorism[patient.info]

  • Thalassemia

    Severe and rare phenotypes of HbH disease can demonstrate similar complications. Osteopenia may be associated with deletional HbH as well. F.[clinicaladvisor.com] […] had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism[ncbi.nlm.nih.gov] Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies[ojrd.com]

  • Acromegaly

    CONCLUSIONS: Benign neoplasms were found in majority of patients with acromegaly (71.6%) most notably: nodular goiter and colon polyps; malignant lesions were rare (4.5%).[ncbi.nlm.nih.gov] […] acromegaloid facial appearance syndrome, featuring a prominent forehead, prognasthism (mandibular protusion), enlarged nose, large ears, macroglossia, (usually lower) macrocheilia, hypertelorism[scielo.br] Acromegaly patients presenting with a hematological malignancy are rare. To date, there are several cases that have reported the co-occurrence of these diseases.[karger.com]

  • 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] This normalization was more pronounced in females and was probably related to their early puberty.[scielo.br] […] 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]

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