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Syndactyly - Polydactyly - Ear Lobe 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]
  • A cystic CSP was present, measuring 1.5-cm maximum transverse diameter ( Fig 1 C ). The myelination pattern appeared normal.[ajnr.org]
  • Myopia is sometimes present. The ERG reveals generalized rod and cone dysfunction in some eyes, but may be normal in others. In many eyes the ERG is nonrecordable. Cataracts are frequently present.[disorders.eyes.arizona.edu]
  • Another interesting link between the little finger & autism has been presented a few years earlier by the author of the present article (van Mensvoort, 2000-2003): THE HAND & AUTISM.[handresearch.com]
Broad Great Toe
  • Short broad great toe macrocranium[?] Short chain Acyl CoA dehydrogenase deficiency[?] Short limb dwarf lethal Colavita Kozlowski type[?] Short limb dwarf lethal Mcalister Crane type[?] Short limb dwarf oedema iris coloboma[?][encyclopedia.kids.net.au]
  • great toe macrocranium Short-chain acyl-CoA dehydrogenase deficiency Short limb dwarf lethal Colavita–Kozlowski type Short limb dwarf lethal Mcalister–Crane type Short limb dwarf oedema iris coloboma Short limb dwarfism Al Gazali type Short limbs abnormal[en.wikipedia.org]
Multiple Congenital Anomalies
  • Orphanet Journal of Rare Diseases 2007 2 :42 Garavelli and Mainardi; licensee BioMed Central Ltd. 2007 Received: 26 June 2007 Accepted: 24 October 2007 Published: 24 October 2007 Abstract Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome[ojrd.biomedcentral.com]
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
  • The Greig cephalopolysyndactyly syndrome (GCPS) is a rare pleiotropic, multiple congenital anomaly syndrome.[radiopaedia.org]
  • Human Genet, 1997, 22: 164-5 Edit 100 Muneer_1982 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails[chr7.org]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Our department was started at Ashikaga Red Cross in 2009, so we are a relatively new department, but are currently staffed by two full-time doctors, and also have physicians visiting from other hospitals three days a week.[ashikaga.jrc.or.jp]
Short Finger
  • fingers/part of forearm/arm, cleft hand etc.[cosmeticsurgeondelhi.net]
  • fingers, bilateral hydrocoeles, small umbilical hernia, peripheral hypertonia (at 19 mos), astrocytoma at 26 months of age, endocrine dysfunction secondary to astrocytoma p15.3 DGAP096 gap/ Edit 26 17228165 46, XX, der(9)add(9p24),1 6qh [der(9)t(7,9)[chr7.org]
Surgical Procedure
  • Non-Surgical Procedures As time passes your skin begins to show the natural, inevitable signs of aging—wrinkles, sagging, sun damage, and other imperfections.[wilmingtonhealth.com]
Ptosis
  • Other Conditions Ptosis, facial paralysis, progressive hemifacial atrophy (Parry–Romberg syndrome), pilonidal cysts, ingrown nails, abdominal wall hernias, lymphedema, inverted nipples, bromhidrosis (body odor), hair loss, etc.[ashikaga.jrc.or.jp]
  • ,XY.arr (7p21.2p14.3)x1 de novo craniosynostosis, asymmetrical face, overlapping cranial sutures, hypertrichosis of forehead,low nasal bridge with anteverted nostrils, small palpebral fissures, hypertelorism with epicanthic folds, ptosis of the eyelids[chr7.org]
  • Pre and Post Operative Case -4 Case -5 Case -6 Case -7 2 Eyelid defects: full thickness defect (coloboma), drooping (ptosis), dermoids, hemangiomas etc. Case -8 Coloboma of right upper eyelid.[cosmeticsurgeondelhi.net]
  • […] micrognathia, high arched palate ROEDEMA: oedema of hands/feet (early) STATURE: short, pectus excavatum, winging of scapula HEAD: excess skin on nape, low post hairline, high ant hairline, macrocephaly, traingular face, short webbed neck EYES: hypertelorism, ptosis[quizlet.com]
  • Symptoms - Between 30% and 50% cases Finger syndactyly Autosomal dominant inheritance Pica Cataract Irregular hyperpigmentation Rare Symptoms - Less than 30% cases Microphthalmia Agenesis of corpus callosum Iris coloboma Craniosynostosis Ventriculomegaly Ptosis[mendelian.co]
Blepharoptosis
  • Edit 137 Numabe_1 del(7)(q35q36.3) microcephaly, brachycephaly, right blepharoptosis, right microphthalmia, hypotelorism, microtia, low nasal bridge, bulbous nose, anteverted nostril, high philtrum, microstomia, high-arched palate, short neck, short sternum[chr7.org]
Torticollis
  • Pre and Post Operative 4 Neck defects: torticollis (wryneck) Case -12 Torticollis 5 Genetic/hereditary conditions/abnormal development: neurofibroma, hemangioma, pigmented lesions etc.[cosmeticsurgeondelhi.net]
  • Wry Neck Wry neck or Loxia or Torticollis, is a dystonic condition recognized by an abnormal, asymmetrical head or neck position, which may be due to a variety of causes.Our doctors hold expertise in the treatment of Wry neck, which is carried out using[indiamart.com]
  • Spasmodic torticollis[?] Spastic angina with healthy coronary artery[?] Spastic ataxia Charlevoix-Saguenay type[?] Spastic diplegia infantile type[?] Spastic dysphonia[?] Spastic paraparesis deafness[?] Spastic paraparesis, infantile[?][encyclopedia.kids.net.au]
Hirsutism
  • Polymicrogyria Nystagmus Hypertelorism Autosomal recessive inheritance Hamartoma Kyphoscoliosis Abnormality of finger Squamous cell carcinoma Generalized hyperpigmentation Somatic mutation Carious teeth Hyperkeratosis Alopecia Strabismus Generalized hirsutism[mendelian.co]
  • […] nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism[chr7.org]
  • Some individuals have cryptorchidism, seizures, and ectodermal abnormalities including nail hypoplasia, hirsutism, and microdontia. Mental and physical delays are common.[disorders.eyes.arizona.edu]
Hypertrichosis
  • ,XY.arr (7p21.2p14.3)x1 de novo craniosynostosis, asymmetrical face, overlapping cranial sutures, hypertrichosis of forehead,low nasal bridge with anteverted nostrils, small palpebral fissures, hypertelorism with epicanthic folds, ptosis of the eyelids[chr7.org]
  • The teeth may be malformed and numerous (29%) of individuals have hypertrichosis. Nearly a third of individuals have a cleft palate/bifid uvula.[disorders.eyes.arizona.edu]
  • , Pfeiffer type Cardiofaciocutaneous syndrome Carney complex-trismus-pseudocamptodactyly syndrome Carpenter syndrome Carpenter-Waziri syndrome Carpotarsal osteochondromatosis Cartilage-hair hypoplasia Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual[se-atlas.de]
Ear Deformity
  • Ear deformities vary in severity. Grade 1 is small, malformed ears. Grade 2 is a vertical remnant of skin and cartilage with no ear canal. Grade 3 is a small remnant and lobule. Patients also have variable degrees of deafness.[emedicine.medscape.com]
Hypertelorism
  • , high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears, kyphoscoliosis, irregular form[chr7.org]
  • Case -9 Number 7 Craniofacial cleft Case -10 Number4 Craniofacial Cleft Case -11 Hypertelorism, complete craniofacial correction. Number 0 cleft.[cosmeticsurgeondelhi.net]
  • Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion.[emedicine.medscape.com]
  • […] aplasia (1%), remainder parital Di George Results from dysmorphogenesis of 3rd/4th pharyngeal pouches -- hypoplasia of thymus/parathyroid glands Features (CATCH-22): - Cardiac (esp TOF truncus arteriosus, DORV, CoA) - Abnromal facies (short philtrum, hypertelorism[quizlet.com]
  • PROTEUS SYNDROME Is also known as gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly;partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome Related symptoms: Intellectual disability Seizures Pica Scoliosis Hypertelorism[mendelian.co]
Cleft Lip and-or Palate
  • Cleft lip and cleft palate Cleft Lip and Cleft Palate are facial and oral malformations that occur during early stages in pregnancy, while the baby is developing inside the mother’s body.[indiamart.com]
  • Other conditions associated with amniotic band syndrome include hemangioma, cleft lip and/or palate and clubfeet. Each child affected by amniotic bands can have different clinical symptoms. Amniotic band syndrome is rare.[aboutanosplasticsurgery.com]
  • Clinical presentation congenital hypoplastic anemia - fetal anemia triphalangeal thumbs broad thumb abnormal clavicles cleft lip or cleft palate hypoplastic radii hydrocephalus (due to Dandy-Walker anomaly) ...[radiopaedia.org]
  • lip and palate, retrognathia q34 12589098 fetus (16 weeks) monosomy of 7q34-qter; father had balanced t(2;7) Edit 127 8985736_index 46, XX, der(7)t(7;8)(q34;p12) mat facial dysmorphism including cleft lip/palate, broad nasal bridge, short neck with minimal[chr7.org]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Seizure
  • At 7 months, the patient developed seizures, which were controlled by medication. An electroencephalogram indicated seizure activity in the right occipital region spreading to the temporal lobe.[ajnr.org]
  • , 5; BFIS5 OMIM:121200 Seizures, Benign Familial Neonatal, 1; BFNS1 OMIM:121201 Seizures, Benign Familial Neonatal, 2; BFNS2 OMIM:608217 Seizures, Benign Familial Neonatal, 3; BFNS3 OMIM:269720 Seizures, Benign Familial Neonatal, Autosomal Recessive OMIM[informatics.jax.org]
  • The seizures are variable in nature, from absences to generalized seizures and myoclonic seizures [ 9, 19 ].[ojrd.biomedcentral.com]
  • CLINICAL DIAGNOSIS, but can test for above mutation Feats (FOB): FACE: microcephaly, synophrys, long eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures[quizlet.com]
  • Seizures benign familial neonatal recessive form[?] Seizures mental retardation hair dysplasia[?] Selachophobia[?] Selenium poisoning[?] Selenophobia[?] Selig Benacerraf Greene syndrome[?] Seminoma[?] Semmerkrot Haraldsson Weenaes syndrome[?][encyclopedia.kids.net.au]

Treatment

  • Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here.[pediascape.org]
  • Treatment - Syndactyly-polydactyly-ear lobe syndrome Not supplied. Resources - Syndactyly-polydactyly-ear lobe syndrome Not supplied.[checkorphan.org]
  • 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]
  • Our surgical treatments are highly admired for cleft lip & cleft palate problems in children.[indiamart.com]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]

Prognosis

  • Diagnosis - Syndactyly-polydactyly-ear lobe syndrome * Ear Infection Tests * Ear Tests * Hearing Tests Prognosis - Syndactyly-polydactyly-ear lobe syndrome Not supplied. Treatment - Syndactyly-polydactyly-ear lobe syndrome Not supplied.[checkorphan.org]
  • Unfavourable prognosis of patients with trisomy 18q21 detected by fluorescence in situ hybridisation in t(11;18) negative, surgically resected, gastrointestinal B cell lymphomas. J Clin Pathol. 2004;57:360-64.[rarediseases.org]
  • Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants.[disorders.eyes.arizona.edu]
  • […] dysfunction (recurrent infections) - increased cancer risk, esp hepatoblastoma - cleft lip/palate Ix: - EEG shows characteristic short burst suppression pattern arising from each hemisphere (not hypsarrhythmia) - MRI shows absence of corpus collosum VERY poor prognosis[quizlet.com]
  • Prognosis There are few data about survival of the patients affected by MWS. We are aware of the death of three patients.[ojrd.biomedcentral.com]

Etiology

  • Synonyms syndactyly-polydactyly-ear lobe syndrome Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • Also, the distinction may be important both clinically and in etiological studies.[cdc.gov]
  • Etiology MWS is caused by an heterozygous mutation in the ZEB2 gene (OMIM# 605802) [ 35 ] that was identified by Wakamatsu et al and Cacheux et al in 2001 [ 2, 3 ].[ojrd.biomedcentral.com]
  • Hearing loss is described as sensorineural in etiology but malformations of the pinnae and external meatus are sometimes present.[disorders.eyes.arizona.edu]

Epidemiology

  • Epidemiology It typically affects infants and young ...[radiopaedia.org]
  • Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23:856-60. Wagner R, Thom E, Simpson JL, et al. First semester screening for trisomies 21 and 18.[rarediseases.org]
  • Epidemiology The prevalence of MWS is currently unknown, but it seems probable that the syndrome is under-diagnosed, particularly in patients without HSCR [ 4 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Prevention

  • Prevention - Syndactyly-polydactyly-ear lobe syndrome Not supplied. Diagnosis - Syndactyly-polydactyly-ear lobe syndrome * Ear Infection Tests * Ear Tests * Hearing Tests Prognosis - Syndactyly-polydactyly-ear lobe syndrome Not supplied.[checkorphan.org]
  • Congenital constriction band syndrome: This occurs when a ring takes shape around a finger or arm, causing problems that can prevent blood flow and normal development.[specialistshospital.com]
  • It must be performed with care to prevent any neurologic problems. Spinal fusion should be performed, and cord pressure should be decompressed.[emedicine.medscape.com]
  • Consumption of a grape extraction postscript containing resveratrol decreases oxidized LDL and ApoB in patients undergoing primordial prevention of cardiovascular virus: a tri- ple-blind, 6-month backup, placebo-controlled, randomized trial.[mominthecity.com]
  • […] linear hypopigmented lesions - Alopecia - Hypodontia (teeth failure) - Dystrophic nails - Neuro (motor delay, seizures) - Bones (hemivertebrae, scoliosis) 1 in 40,000 Neurodegenerative condition AR inheritance caused by mutation in ATM gene on Ch11 (gene prevents[quizlet.com]

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