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390 Possible Causes for Hypertelorism, Rarely Malignant, Round Face

  • 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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[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]

  • Chromosome 18p Deletion Syndrome

    This deletion has been observed in both myeloid (14 cases) and lymphoid (10 cases) malignancies and has been predominantly associated with a complex karyotype.[atlasgeneticsoncology.org] The patient presented with characteristic features of single nostril, hypertelorism, ptosis, down slanting eyes, microcephaly and short neck [Figure 1].[jisppd.com] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org]

  • 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[en.wikibooks.org] Neurofibromas may be soft, or firm and round. Lisch nodules can also occur. These are very small brown spots that may appear in the iris of the eye.[medicalnewstoday.com] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

  • Gorlin Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov] […] or ulcerated and crusted surface were observed on the face and trunk ( Fig. 1 ).[dx.doi.org]

  • Spondylocarpotarsal Synostosis

    Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation.[ccmbm.com] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[medical-dictionary.thefreedictionary.com] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net]

  • 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] 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] Chromosome 18p deletion Syndrome The main clinical features of deletion are mental disabilities, growth disturbances, head and face anomalies (round face, enlarged oral cavity[nipt.ng]

  • 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 clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Craniorhiny

    However, pleural metastases of soft tissue sarcoma that constitute less than 1% of adult solid malignancy are extremely rare.[biomedsearch.com] The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum.[unboundmedicine.com] Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental[mendelian.co]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

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