Presentation
The degree of visual impairment depends upon the severity and/or combination of eye abnormalities present. [rarediseases.org]
Entire Body System
- Hodgkin Lymphoma
T-cell Non-Hodgkin lymphoma associated with myelodysplasia: A case report in a child. Med. Sci. Discov. 2018, 5, 202–206. [mdpi.com]
Respiratoric
- Aspiration
Bone marrow aspirates were evaluated by immunofluorescent-labeled antibodies against cytoplasmic kappa and lambda immunoglobulin light chains to selectively identify the plasma cell population. [nature.com]
Gastrointestinal
- Failure to Thrive
Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), abnormal enlargement of the liver (hepatomegaly), and/or failure to thrive. [rarediseases.org]
Musculoskeletal
- Macrocephaly
Recently, an infant of partial trisomy 10p12.33 (19.5 Mb) and partial monosomy 13q32.1 (18.3 Mb) from a maternal t(10;13) showed intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly patent ductus arteriosus, renal agenesis [hindawi.com]
Ears
- Low Set Ears
The proband postnatally displayed additional abnormalities such as microphthalmia, hypertelorism, large low‐set ears, and micrognathia. [obgyn.onlinelibrary.wiley.com]
[…] small mouth, small nose, broad, flat nasal bridge, short neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia (small jaw), tooth enamel defects, short stature, microcephaly (small head), a prominent, long philtrum, and [owlapps.net]
small mouth, small nose, broad, flat nasal bridge, short neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia (small jaw), tooth enamel defects, short stature, microcephaly (small head), a prominent, long philtrum, and [en.wikipedia.org]
The neonatal evaluation revealed some dysmorphic features including frontal bossing, low and flat nasal bridge, low-set ears, nasal bridge hypoplasia, hypertelorism, bilateral epicanthus, high-arched palate, short broad neck, thin upper lip, and polydactyly [hindawi.com]
ears; and/or a short neck with abnormal skin folds (webbing). [rarediseases.org]
Face, Head & Neck
- Frontal Bossing
The neonatal evaluation revealed some dysmorphic features including frontal bossing, low and flat nasal bridge, low-set ears, nasal bridge hypoplasia, hypertelorism, bilateral epicanthus, high-arched palate, short broad neck, thin upper lip, and polydactyly [hindawi.com]
Psychiatrical
- Suggestibility
Taken together, it is suggested that the abnormalities of chromosome 9p23 and/or 13q31 are associated with developmental glaucoma with other systemic anomalies. [jamanetwork.com]
These findings suggest that this particular type of holoprosencephaly may be related to ZIC2 gene loss of function. [link.springer.com]
Many researchers have suggested that such distal deletions do not usually appear to be associated with major malformations. [rarediseases.org]
- Psychomotor Retardation
Affected infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as varying degrees of mental retardation. [checkorphan.org]
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]
She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. [hindawi.com]
Affected infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as varying degrees of intellectual disability. [rarediseases.org]
Workup
Serum
- Karyotype Abnormal
Poor prognosis in multiple myeloma is associated only with partial or complete deletions of chromosome 13 or abnormalities involving 11q and not with other karyotype abnormalities. Blood. 1995;86:4250–4256. [PubMed] [Google Scholar] 11. [ncbi.nlm.nih.gov]
Poor prognosis in multiple myeloma is associated only with partial or complete deletions of chromosome 13 or abnormalities involving 11q and not with other karyotype abnormalities. Blood 1995; 86: 4250–4256. [nature.com]
complex karyotypes with 3 abnormalities Complex karyotypes with >3 abnormalities © 2020 by the authors. [mdpi.com]
Treatment
Prognosis Affected individuals may have a somewhat shortened lifespan without treatment. The maximum lifespan without treatment is 67 years. [owlapps.net]
In some cases, treatment may include surgical repair of certain malformations. [rarediseases.org]
The maximum lifespan without treatment is 67 years. [en.wikipedia.org]
Prognosis
In practice, survival is not always high for favorable-prognosis patients, while the poor-prognosis group may reveal individuals with an indolent course. [mdpi.com]
Lymphoid neoplasms associated with concurrent t(14;18) and 8q24/c-MYC translocation generally have a poor prognosis. Mod Pathol 2006; 19: 25–33. [nature.com]
The prognosis of MM patients is dependent on several factors including the patient’s age, the stage of disease and genetic alterations. [ncbi.nlm.nih.gov]
Prognosis Affected individuals may have a somewhat shortened lifespan without treatment. The maximum lifespan without treatment is 67 years. [owlapps.net]
[…] child is responding to well to his medical treatment, it is important to utilize special educators, speech and occupational therapists, and physiotherapists to help the child develop skills that will aid in his/her life in and out of the classroom.[3] Prognosis [en.wikipedia.org]
Epidemiology
Epidemiology It is incredibly rare, with fewer than 190 cases described. [owlapps.net]
It is not uncommon for adults with 13q deletion syndrome to need support services to maintain their activities of daily living, including adult day care services or housing services.[3] Epidemiology[edit] It is incredibly rare, with fewer than 190 cases [en.wikipedia.org]
Although no epidemiological data on MDS in Russia have been gathered yet, the Surveillance, Epidemiology and End Results (SEER) data suggests that the majority of MDS patients in the USA with an onset in 2012–2016 were above 70 years of age [3]. [mdpi.com]
Pathophysiology
Mechanism/Pathophysiology This disorder is caused by the deletion of the long arm of chromosome 13, which can either be deleted linearly or as a ring chromosome. [owlapps.net]
Genetic abnormalities and pathophysiology of MDS. Int. J. Clin. Oncol. 2019, 24, 885–892. [mdpi.com]
Prevention
Drugs such as digoxin may help to prevent irregular heartbeats and excessively rapid heartbeats (tachycardia). [rarediseases.org]