Mild microcephaly may be present. [ojrd.biomedcentral.com]

Despite technical development in prenatal detection and evaluation over decades, prenatal diagnosis of monosomy 18p syndrome still presents as a challenge in clinical practice may due to its varied and untypical clinical presentation. [journals.lww.com]

In some individuals with Monosomy 18p, additional physical abnormalities may be present. [rarediseases.org]

Similar features were observed in the present case.[12] The various clinical features reported by various authors are summarized in Table 1 and compared with the features seen in the present case. [ncbi.nlm.nih.gov]

• Movement Disorder

  Movement disorders including dystonia, myoclonus, ataxia, and tic disorder have been reported in individuals with the 18p deletion syndrome [6, 7, 8]. [sciendo.com]

  In one study, 2 of 3 people with 18p- had an anxiety disorder, 1 of 3 had a communication disorder, and 1 of 3 had a motor skills disorders, and 1 of 3 had a stereotypic movement disorder. [en.wikipedia.org]

  Dystonia, a movement disorder, may appear in young adulthood [20, 21]. [ojrd.biomedcentral.com]

• Coxa Vara

  Other malformations Various skeletal deformities such as scoliosis and/or kyphosis, coxa vara, dislocation of the hip and feet deformities have been reported. In males, genital hypoplasia with small penis and cryptorchidism is occasionally observed. [ojrd.biomedcentral.com]

In part due to patient’s worsening energy level, endocrine workup was repeated at 3 months of age. [hindawi.com]

Treatment Because Monosomy 18p affects each individual so differently, treatment and interventions must be tailored to the individual needs of the patient. [vinmec.com]

Management including treatment The treatment is directed toward the specific symptoms that are apparent in each individual. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Chromosome 18, Monosomy 18p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Treatment[edit] At present, treatment for 18p- is symptomatic, meaning that the focus is on treating the signs and symptoms of the conditions as they arise. [en.wikipedia.org]

Though several cases of 18p monosomy with GH deficiency reported that the patients showed excellent catch-up growth after GH treatment;19–20 however, there is no indication of GH treatment according to the guideline of US Food and Drug Administration [dovepress.com]

Prognosis The prognosis is poor for those patients with severe brain malformations; most often they die in the newborn period. [ojrd.biomedcentral.com]

The prognosis is poor for those patients with severe brain malformations otherwise survival up to the 6th decade was reported.[7] Genetic counseling will also be of benefit for affected individuals and their families. [ncbi.nlm.nih.gov]

This information may help paediatricians, neurologists and geneticists to better counsel families about the developmental prognosis of this rare unbalanced chromosomal rearrangement. [pubmed.ncbi.nlm.nih.gov]

Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals. References[edit] ^ a b Turleau, Catherine (2008). [en.wikipedia.org]

Thus, further study is needed to clarify the etiology and the correlation between genes and symptoms. Besides, the patient should be followed up for a long term. Conclusion This report sheds new lights on the del(18p) syndrome. [dovepress.com]

Notably, one of the five cases (mCNV7) carried CNVs only on the paternally derived chromosomes, raising the possibility of etiological heterogeneity among mdn CNVs [14]. [sciendo.com]

Epidemiology More than 150 patients have been reported worldwide and most cases are no longer subject to publication. The incidence of the disorder could be estimated as about 1:50,000 live-born infants. The female to male ratio is 3/2. [ojrd.biomedcentral.com]

[…] currently, there is no specific treatment for 18p deletion, except speech therapy and early educational programs may help to improve the performances of the children.[3] Therefore, the prenatal diagnosis of monosomy 18p syndrome is important for early prevention [journals.lww.com]