Presentation
Patients present an increased risk for gonadoblastoma. [from SNOMEDCT_US] Etiology Am J Med Genet A 2013 Aug;161A(8):1882-96. Epub 2013 Jul 3 doi: 10.1002/ajmg.a.36018. [ncbi.nlm.nih.gov]
For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. [rarediseases.org]
Gastrointestinal
- Failure to Thrive
Although she had failure to thrive as an infant, this has since resolved. During childhood she was diagnosed with moderate mental retardation. She has also been described as having autistic-like features. [nature.com]
Skin
- Sweating
Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]
Face, Head & Neck
- Short Nose
nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196 7 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551 8 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705 9 upslanted palpebral fissure 58 31 hallmark (90% [malacards.org]
Many affected infants also have unusually flat midfacial regions (midfacial hypoplasia), including a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); an abnormally long vertical groove in the center of the upper lip (philtrum [rarediseases.org]
- Protruding Lips
and/or a small jaw (micrognathia) and small mouth with protruding lips. [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of Chromosome 9, Partial Monosomy 9p is directed towards the specific symptoms that are apparent in each individual. [rarediseases.org]
Prognosis
PMID: 21939171 Prognosis Chew HB, Thong MK Med J Malaysia 2010 Sep;65(3):215-7. PMID: 21939171 [ncbi.nlm.nih.gov]
This study is aimed to better define the clinical history and prognosis of patients with this rare chromosomal aberration. © 2019 S. [karger.com]
Etiology
[from SNOMEDCT_US] Etiology Am J Med Genet A 2013 Aug;161A(8):1882-96. Epub 2013 Jul 3 doi: 10.1002/ajmg.a.36018. PMID: 23824832 Diagnosis Richardson EJ, Scott FP, McLennan AC Prenat Diagn 2017 Dec;37(13):1298-1304. doi: 10.1002/pd.5184. [ncbi.nlm.nih.gov]
Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO (2010) Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. Am J Med Genet A 152A(6):1383–1389 PubMed Google Scholar 3. [link.springer.com]
Epidemiology
Table - Main features from 80 cases of del (9p) As the sole anomaly (39 cases) With other unbalanced segment (41 coses) No of cases or mean value No of informative cases No of cases or mean value No of informative cases Epidemiology De novo 34/34 2/40 [publications.fondationlejeune.org]
Prevention
For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes. [rarediseases.org]