Presentation
The relationship between these syndromes is presently unknown. MalaCards based summary : Brachymorphism-Onychodysplasia-Dysphalangism Syndrome, also known as bod syndrome, is related to senior-loken syndrome 1 and coffin-siris syndrome 1. [malacards.org]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. [ncbi.nlm.nih.gov]
Entire Body System
- Inguinal Hernia
0000248 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Coarse facial features Coarse facial appearance 0000280 Generalized hirsutism Excessive hairiness over body 0002230 High anterior hairline High frontal hairline 0009890 Inguinal [rarediseases.info.nih.gov]
hernia Intellectual disability, mild Symphalangism affecting the phalanges of the hand Thick eyebrow Umbilical hernia (Source: BOD Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences [dovemed.com]
Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. [mendelian.co]
Respiratoric
- High Pitched Voice
The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. [ncbi.nlm.nih.gov]
The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed—ventricular and atrial septal defect, patent ductus arteriosus. [journals.lww.com]
Musculoskeletal
- Decrease in Height
[…] circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Short distal phalanx of toe Short outermost bone of toe 0001857 Short stature Decreased body height Small stature [ more ] 0004322 Toenail [rarediseases.info.nih.gov]
Face, Head & Neck
- Broad Nasal Bridge
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]
[…] and prominent nasal bridge, and diminished alar flare. [mendelian.co]
- Narrow Face
THREE M SYNDROME 1; 3M1 Is also known as 3m syndrome, le merrer syndrome, dolichospondylic dysplasia, gloomy face syndrome;3-m syndrome; dolichospondylic dysplasia; gloomy face syndrome; le merrer syndrome; yakut short stature syndrome Related symptoms [mendelian.co]
Workup
workup usually Get an X-ray evaluation Get evaluation for seizures, hydrocephalus,as indicated with CT scan of the abnormal ultrasound abdomen for gall bladder and kidneysof sinus area; maybe CT scanIf all normalжmonitor and wait for pain resolution92 [lumiererestaurant.com]
Treatment
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
The complications of BOD Syndrome may include: Emotional stress due facial deformities Involvement of the heart and lungs Intellectual impairment Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Since, bioavailability of drugs in this route of supplying often depends on the GI traverse place of the dosage form it is of value to mark between an appropriate treatment delivery structure for an especial dispassionate in treatment of diseases. [nhha.org]
Treatment and management The treatment or therapy required for children with Coffin-Siris syndrome is based on the particular symptoms of each individual. Some children may require surgery to repair malformations that may be seen with this disorder. [encyclopedia.com]
Prognosis
Prognosis Infants born with Coffin-Siris syndrome may experience a delay or absence of motor and mental activities, but with support can live into adulthood. [encyclopedia.com]
Gunduz M, Beder LB, Gunduz E, Nagatsuka H, Fukushima K, et al. (2008) Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer. Can Sci 99: 531–538. View Article Google Scholar 39. [journals.plos.org]
Organization、 WHO 中央登録 - 中心体 - centrosome 中心静脈栄養法 - lntraveous hyperalimentation;lVH 中間径フィラメント - intermediate filaments 主権免責 - sovereign immunity 主要組織適合遺伝子複合体 - MHC(major histocompatibility complex) 乳化剤 - emulsifiers 予備受容体 - spare receptor、 スペア受容体 予後 - Prognosis [pharm.or.jp]
Etiology
(Etiology) The cause of BOD Syndrome is not known. [dovemed.com]
Center, Dallas Publisher: Cambridge University Press https://doi.org/10.1017/CBO9780511545054.041 pp 313-317 Summary Introduction The Coffin–Siris syndrome (CSS) is a multiple congenital anomalies/mental retardation syndrome (MCA/MR) of hitherto unknown etiology [cambridge.org]
Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology. [icd10data.com]
Etiology Pathophysiology The LMX1B gene is mutated in nail patella syndrome. [dermatologyadvisor.com]
Endocrine evaluations found no etiology for her clinical presentation and her hearing was within normal limits. Her vision was 20/60 with corrective glasses prescribed. [journals.plos.org]
Epidemiology
[Handicapped epidemiology in children]. Berthier M, Oriot D. Arch Pediatr. 2001 Mar;8(3):334-5. French. No abstract available. [Meconium in the amniotic fluid: prevention of meconium aspiration and elective tracheal suction]. Oriot D, Pérez T. [abslab.labo.univ-poitiers.fr]
Pathophysiology
Etiology Pathophysiology The LMX1B gene is mutated in nail patella syndrome. [dermatologyadvisor.com]
Prevention
How can BOD Syndrome be Prevented? Currently, BOD Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
[Meconium in the amniotic fluid: prevention of meconium aspiration and elective tracheal suction]. Oriot D, Pérez T. Arch Pediatr. 2001 Feb;8(2):211-3. Review. [abslab.labo.univ-poitiers.fr]
Patient Management Patient managment should focus on monitoring and prevention of serious complications. Refer to a nephrologist for annual screening for renal disease from birth. This should include blood pressure and urine analysis. [dermatologyadvisor.com]
一次代謝 - primary metabolism 一次救急医療機関 - 初期救急医療機関 一般用医薬品 - over-the-counterdrug 一酸化炭素 - Carbon Monooxide、 CO 一酸化窒素 - nitric oxide 、 内皮由来弛緩因子 、 EDRF 一重項酸素 - siglet state molecular oxygen 三次予防 - tertiary prevention 三次救急医療機関 - 三種混合ワクチン - DPT ワクチン 三重項酸素 - triplet [pharm.or.jp]