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]
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]
In the younger sister a cardiac defect was diagnosed--ventricular and atrialseptaldefect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap.[ncbi.nlm.nih.gov]
septaldefect and cleft mitral valve, hirsutism, and mild developmental delay. {1:Brautbar et al. (2009)} suggested that even though the patient met the minimal clinical diagnostic criteria of Coffin-Siris syndrome, some features, such as mild developmental[bio2rdf.org]
septaldefect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Brachycephaly Short and broad skull 0000248 Clinodactyly of the 5th finger Permanent curving of[rarediseases.info.nih.gov]
septaldefect Brachycephaly Clinodactyly of the 5th finger Coarse facial features Generalized hirsutism High anterior hairline Inguinal hernia Intellectual disability, mild Symphalangism affecting the phalanges of the hand Thick eyebrow Umbilical hernia[dovemed.com]
hernia 0000023 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773[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, inguinalhernia and cryptorchidism.[mendelian.co]
The older sister additionally had a high-pitchedvoice 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-pitchedvoice 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]
[…] flattening Zygomatic flattening 0000272 Pointed chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Strabismus[rarediseases.info.nih.gov]
[…] distal phalanx of toe Toenail dysplasia Wide nasal bridge Frequently present symptoms in 30-79% of the cases: Biparietal narrowing Epicanthus Frontal bossing High forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus[dovemed.com]
, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; teebi hypertelorism syndrome; teebi syndrome Related symptoms: Autosomal dominant inheritance Hypertelorism Strabismus[mendelian.co]
Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd10data.com]
[…] body height Small stature [ more ] 0004322 Toenail dysplasia Abnormal toenail development 0100797 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased[rarediseases.info.nih.gov]
chin Pointy chin Small pointedchin Witch's chin [ more ] 0000307 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Strabismus Cross-eyed Squint Squint eyes [[rarediseases.info.nih.gov]
Abstract Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointedchin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal[ncbi.nlm.nih.gov]
Abstract : [en] Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointedchin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub[orbi.uliege.be]
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointedchin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence[ncbi.nlm.nih.gov]
chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence.[semanticscholar.org]
Dysmorphic facial features included highforehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed.[ncbi.nlm.nih.gov]
forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus Triangular face Wide mouth Occasionally present symptoms in 5-29% of the cases: Abnormality of the mitral valve Abnormality of the respiratory system Atrial[dovemed.com]
bossing High forehead Intrauterine growth retardation Malar flattening Pointed chin Prominent nose Strabismus Triangular face Wide mouth Occasionally present symptoms in 5-29% of the cases: Abnormality of the mitral valve Abnormality of the respiratory[dovemed.com]
Diseases related with Frontalbossing and Thick eyebrow In the following list you will find some of the most common rare diseases related to Frontalbossing and Thick eyebrow that can help you solving undiagnosed cases.[mendelian.co]
bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com]
nasalbridge 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 bridge [[rarediseases.info.nih.gov]
nasalbridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip).[mendelian.co]
face Confusion Hypoplasia of the ulna Choanal stenosis Abnormality of the metaphysis Functional respiratory abnormality Thick vermilion border Decreased testicular size Triangular face Glossoptosis Scapular winging Neonatal respiratory distress Protruding[mendelian.co]
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]
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]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
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]
(Etiology) The cause of BOD Syndrome is not known.[dovemed.com]
University of Texas Southwestern Medical Center, Dallas Publisher: Cambridge University Press 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]
[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]
Prevention - Brachymorphism onychodysplasia dysphalangism syndrome Not supplied. Diagnosis - Brachymorphism onychodysplasia dysphalangism syndrome Not supplied. Prognosis - Brachymorphism onychodysplasia dysphalangism syndrome Not supplied.[checkorphan.org]
How can BOD Syndrome be Prevented? Currently, BOD Syndrome may not be preventable, since it is a genetic disorder.[dovemed.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]