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Eyebrow Duplication - Syndactyly Syndrome


Presentation

  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Oral features occurred in 53 (98%) cases; macrodontia was present in 49 (96%) cases."[kbgfoundation.com]
  • The present case represents the seventh instance of report of this condition which for the first time presented as an isolated occurrence rather that a familial presentation.[ijdentistry.com]
  • The aim of our present examinations was to assess ... 618 Higher cortical disorders: an unusual presentation of an arteriovenous malformation. von Overbeeke J J - - 1987 The authors present a patient with a large arteriovenous malformation in the temperoparietooccipital[biomedsearch.com]
  • Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2013 Dec 27. [Epub ahead of print].[disorders.eyes.arizona.edu]
Splenomegaly
  • Hypoplasia of the semicircular canal Agenesis of corpus callosum Respiratory distress Midface retrusion Anteverted nares Optic atrophy Cloverleaf skull Palmoplantar cutis gyrata White eyelashes Anosmia Pes cavus Areflexia Hyporeflexia Arrhythmia Coma Splenomegaly[mendelian.co]
Physician
  • Professor of Surgery (Plastic); Director, Yale Hand & Microsurgery Program Biography Research & Publications Patient Care News Locations Physician Biography Dr.[medicine.yale.edu]
  • Years Published 1987, 1989, 1992, 1997, 1998, 2002, 2004, 2015, 2018 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
  • How much are the costs of the actual ingredients, expense of pharmaceutical company research and development that was necessary to bring the medication to the consumer, product marketing and detailing to physicians, actual profit to the pharmaceutical[consultant360.com]
  • She entered general practice but took an interest in paediatrics and, in 1907, was appointed physician to the Emma Kinderziekenhuis, where a new infants' ward was established on her initiative. She was appointed professor of paediatrics in 1927.[patient.info]
  • Reproductive fitness is low, and more than 98% of cases arise by new mutation.The syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. [1] An infant with Apert syndrome is shown.[emedicine.medscape.com]
Pathologist
  • Involves a comprehensive team of specialists (pediatricians, surgeons, orthopedists, gastroenterologists, urologists, otolaryngologists, cardiologists, dentists, speech pathologists, audiologists, optometrists, PT's, OT's, geneticists).[en.wikibooks.org]
  • […] treat heart abnormalities (cardiologists), skeletal abnormalities (orthopedists), hearing problems (audiologists), urinary tract abnormalities (urologists), kidney dysfunction(nephrologists), as well as dental specialists, physical therapists, speech pathologists[rarediseases.org]
Syndactyly of Second and Third Toes
  • […] of second and third toes hypermobility of interphalangeal joints H E E N T: excess periorbital skin wrinkling congenital fibromata of lips Skin: excessively stretchable skin of face and chest Clinical features from OMIM: 227210 Drugs & Therapeutics for[malacards.org]
Foot Deformity
  • Radio- ulnar synostosis type 2 0 *Abnormalities, Multiple *Foot Deformities, Congenital *Hand Deformities, Congenital *Syndactyly.[reference.md]
Short Hands
  • Ptosis Prominent/high nasal bridge Long philtrum Facial asymmetry Short hand tubular bones Short femoral necks/hip dysplasia Hearing loss Short stature ( Wide eyebrows Wormian bones in skull Abnormal EEG with seizures Cutaneous syndactyly, toes II/III[kbgfoundation.com]
Hypertrichosis
  • Cornelia de Lange Syndrome Clinical Characteristics Ocular Features: Many patients have few ocular findings beyond the usual synophyrs, a highly arched brow with hypertrichosis, and long eyelashes. Synophrys is often prominent.[disorders.eyes.arizona.edu]
  • […] eye-brows, may extend to upper eyelids Medial flare Absence of outer half of eyebrows Loss of median portion of eyebrows Colour Premature graying 1) Mucopolysaccharidosis I-H (Hurler) 2) Fucosidosis syndromes ( I , II, Ill) 1) Maroteaux-Lamy syndrome 1) Hypertrichosis[docslide.com.br]
  • Radiological survey may help with uncertain diagnosis in mild cases. [ 12 ] Cutaneous abnormalities Hypertrichosis may include long eyelashes, hirsutism on the back, and hypoplastic nipples and umbilicus.[patient.info]
  • Clinical characteristics of these individuals include short stature, beaked nose, anti-mongoloid slant of eyes, heavy/high arched eyebrows, microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis[faoj.org]
  • Patient 3 had no evidence of hypertrichosis, although his deletion spanned MAP2K6, the gene hypothesized to underlie this phenotype [45].[journals.plos.org]
Sparse Eyebrows
  • eyebrow Nephroblastoma Cutaneous syndactyly Congenital ptosis Pulmonic stenosis Hyperglycemia Progeroid facial appearance Narrow palm Dural ectasia Lens subluxation Hyperextensibility of the finger joints Pes valgus Entropion Severe intrauterine growth[mendelian.co]
  • The striking features shared by the three types are sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped nose), long flat philtrum, thin upper vermillion border and protruding ears (see Figure three Momeni[ojrd.biomedcentral.com]
Sparse Eyelashes
  • eyelashes Telangiectasia of extensor surfaces Nonimmune hydrops fetalis Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Choroid plexus calcification Pulmonary lymphangiectasia Oval face Membranoproliferative glomerulonephritis[mendelian.co]
Round Face
  • It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual deficits.[karger.com]
  • The 3 patients share several features, such as developmental delay, obesity, hernia, rounded face with full cheeks, epicanthal folds, short palpebral fissures, bulbous nose, large ears, and syndactyly between toes II and III.[diva-portal.org]
  • This phenotype includes BDE (Figure 2 ), small stature, obesity with a rounded face, subcutaneous calcifications, and mental retardation [ 29 ].[ojrd.biomedcentral.com]
Periorbital Wrinkling
  • wrinkles 33 HP:0000607 4 partial duplication of eyebrows 33 HP:0045018 5 hypermobility of interphalangeal joints 33 HP:0005620 6 2-4 finger syndactyly 33 HP:0010709 7 hyperextensible skin of face 33 HP:0007425 8 hyperextensible skin of chest 33 HP:0011930[malacards.org]
  • There was no hyperelasticity of the skin or abnormal periorbital wrinkling. The patients sister, aged 11 years, had similar but more impressive findings.[myslide.es]
Aggressive Behavior
  • Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG.[gene.sfari.org]
  • Behavioral and psychiatric problems are common, including in adults, and may include autistic spectrum disorder, attention deficit hyperactive disorder (ADHD), mood disorder, impulsive or aggressive behavior, and other mental health problems.[portal.bsc.gwu.edu]
Seizure
  • Seizures occur in about half of individuals.[portal.bsc.gwu.edu]
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Short stature[mendelian.co]
  • Ptosis Prominent/high nasal bridge Long philtrum Facial asymmetry Short hand tubular bones Short femoral necks/hip dysplasia Hearing loss Short stature ( Wide eyebrows Wormian bones in skull Abnormal EEG with seizures Cutaneous syndactyly, toes II/III[kbgfoundation.com]
  • "Syndromic" autism includes disorders associated with congenital malformations, facial dysmorphic features, abnormal head sizes or linear growth, seizures, and hypotonia and/or muscle weakness.[mhmedical.com]
  • […] syndactyly of the 2nd and 3rd toes 5th finger clinodactyly GI abnormalities (bowel obstruction) gastroesophageal reflux genitourinary malformations (horseshoe kidney, bicornate uterus) hypoplasia of male genitalia with undescended testes or hypospadias seizures[en.wikibooks.org]
Learning Difficulties
  • The duplication is compatible with normal early childhood development but, although our adult cases live independent lives with varying degrees of support, learning difficulties have been experienced by some family members.[ncbi.nlm.nih.gov]
  • difficulties were found in 5 out of 11 cases, but one prenatal case was developing normally at 15 months of age (Case 1, [3] ).[en.wikipedia.org]
  • The phenotype in Family 2 was regarded as more severe and included a greater degree of learning difficulties, cleft palate and partial 2/3 toe syndactyly.[nature.com]
  • Neither hypertension nor mental retardation was mentioned, but learning difficulties were reported in one family [ 82 ].[ojrd.biomedcentral.com]
  • Learning difficulties may be subtle and IQ scores range from 70 to 89 for most individuals.[portal.bsc.gwu.edu]
Tremor
  • He had a fine intention tremor. The proband's mother lives independently although she does have support from her family. In addition to her facial features, she was born with a cleft palate and has had surgery to bring her jaw forward.[nature.com]
  • He had tapered fingers and a slight resting hand tremor.[journals.plos.org]
Hand Tremor
Dysarthria
  • […] interesting Abnormality of the skeletal system and Aciduria, related diseases and genetic alterations Melanoma and Downturned corners of mouth, related diseases and genetic alterations Myopia and High myopia, related diseases and genetic alterations Dysarthria[mendelian.co]

Workup

Multiple Renal Cysts
  • renal cysts Agitation Finger syndactyly Short neck Skeletal muscle atrophy Contractures of the interphalangeal joint of the thumb Hyperconvex nail Abnormal autonomic nervous system physiology Cupped ear Neurological speech impairment Status epilepticus[mendelian.co]

Treatment

  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Endodontic treatment Endodontic treatment along with lateral apical closure was planned for maxillary right central incisor.[contempclindent.org]
  • Treatment - Eyebrows duplication of- with stretchable skin and syndactyly Not supplied. Resources - Eyebrows duplication of- with stretchable skin and syndactyly Not supplied.[checkorphan.org]
  • Language: Deficits vary with cognitive level, hearing status, and degree/timing of surgical treatment. Oral Motor: Highly arched high palate, irregular dentition, and malocclusion, with forward posture of the tongue.[quizlet.com]

Prognosis

  • Diagnosis - Eyebrows duplication of- with stretchable skin and syndactyly Home medical testing related to Eyebrows duplication of, with stretchable skin and syndactyly: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis[checkorphan.org]
  • Guidelines detailing recommendations for evaluation and management of individuals diagnosed with CdLS have been published. [ 16 ] Prognosis [ 17 ] Most early deaths are in severely affected babies and occur in the first two years of life.[patient.info]
  • Finding the genetic etiology of a syndrome and its association to the phenotype is paramount to better health care, provision of tailored therapy, presymptomatic screening, accurate prognosis, recurrence risk evaluation and in some cases prenatal testing[diva-portal.org]
  • Cornelia de lange syndrome: Clinical features, common complications and long term prognosis. Curr Pediatr 1996;6:69-73. 4. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, et al.[contempclindent.org]

Etiology

  • The empiric recurrence risk of having a second child with autism (ie, having a sibling with autism) in cases where the underlying etiology is unknown is about 3%-5%.[mhmedical.com]
  • In conclusion, four different genetic aberrations involved in the etiology of ID and their corresponding phenotypes and candidate genes have been characterized.[diva-portal.org]
  • This suggested that a defect in telomere maintenance could be involved in the etiology of this disease.[journals.plos.org]
  • Meyerson M D - - 1987 Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia.[biomedsearch.com]
  • Other less frequently used synonyms are Brachman-De Lange Syndrome and typus degenerativus amstelodamensis. [6], [7], [8] Etiology The genetic and molecular bases of these lesions are not clear.[contempclindent.org]

Epidemiology

  • The basic problem appears to be the effect of the genetic mutation on cohesin, a protein which controls faithful chromosome segregation during mitotic and meiotic cell cycles. [ 4 ] Epidemiology [ 5 ] Data from the database of the European Surveillance[patient.info]
  • […] optic disc pallor is more frequent in patients with the FGFR2 Pro253Arg mutation. [4] Patients with FGR2 Ser252Trp mutations have a significantly greater prevalence of visual impairment compared with patients with the FGFR2 Pro253Arg mutation. [4, 5] Epidemiology[emedicine.medscape.com]
  • Hence, PAPPA can be a possible marker in the prenatal diagnosis of Cornelia-de Lange syndrome. [12] Epidemiology Incidence of this entity is variable, ranging from 1 : 30 000 to 1 : 50000 in different population groups. [13] There is no racial predilection[contempclindent.org]
  • Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet. , 27 , 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J.[oandplibrary.org]
  • Johnson LG, Madeleine MM, Newcomer LM, Schwartz SM, Daling JR (2004) Anal cancer incidence and survival: the surveillance, epidemiology, and end results experience, 1973–2000. Cancer 101: 281–288. View Article Google Scholar 40.[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology During early infancy ( 3 mo), the coronal suture area is prematurely closed. A bony condensation line beginning at the cranial base and extending upward with a characteristic posterior convexity represents this occurrence.[emedicine.medscape.com]

Prevention

  • Prevention - Eyebrows duplication of- with stretchable skin and syndactyly Not supplied.[checkorphan.org]
  • Calcium sulfate was found to induce tissue repair when it was used for filling large surgical cavities because invagination of the epithelium, which prevents bone formation, is avoided.[contempclindent.org]
  • Affected individuals may require early intervention to prevent and/or monitor respiratory and feeding difficulties. Special education programs, vocational training, speech, and/or behavioral therapy may also be recommended.[rarediseases.org]
  • To prevent unsuitable chamber resuspension after centrifugation, always resuspend the pellet in the extant convertible (after supernatant slaughter) before adding any chic mean (the hang of Note 10). 1.[warmbutter.com]
  • Pardo B, Marcand S (2005) Rap1 prevents telomere fusions by nonhomologous end joining. EMBO J 24: 3117–3127. View Article Google Scholar 23.[journals.plos.org]

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