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Congenital Malformation Syndromes Affecting Facial Appearance


Presentation

  • CONCLUSIONS: We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macrostomia syndrome, surgically treated with masquerade flaps to preserve corneal health and allow bilateral visual input.[ncbi.nlm.nih.gov]
  • Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery[icd10data.com]
  • In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.[ncbi.nlm.nih.gov]
  • We present the second familial case of ablepharon-macrostomia syndrome in a newborn female and her 22-year-old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder.[ncbi.nlm.nih.gov]
  • We present a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome.[ncbi.nlm.nih.gov]
Corneal Opacity
  • Corneal opacities present initially improved in one eye, allowing a view of the pupil and a normal anterior chamber.[ncbi.nlm.nih.gov]
  • opacity 0007957 Cryptophthalmos 0001126 Dry skin 0000958 Excessive wrinkled skin 0007392 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of penis Underdeveloped penis 0008736 Hypoplasia of the[rarediseases.info.nih.gov]
Joint Deformity
  • It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently[icd10data.com]
Lanugo
  • Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo.[ncbi.nlm.nih.gov]
  • In addition to ablepharon and macrostomia, other anomalies common to all patients include auricular deformity, nasal alar deformity, absence of lanugo hair, dry, ichthyotic skin and ambiguous genitalia.[ncbi.nlm.nih.gov]
  • Ablepharon-macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients.[ncbi.nlm.nih.gov]
  • Abstract The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids.[ncbi.nlm.nih.gov]
  • Abstract The ablepharon macrostomia syndrome is a severe congenital condition that includes total absence of the upper and lower eyelids, failure of lip fusion that results in an enlarged, fish-like mouth, abnormally shaped ears and nose, absence of lanugo[ncbi.nlm.nih.gov]
Alopecia
  • Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia.[ncbi.nlm.nih.gov]
  • Symptoms [ edit ] Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Genetics [ edit ] AMS is inherited in an autosomal dominant manner. [3] [4] Like Barber-Say syndrome, AMS is caused by mutations in the TWIST2[en.wikipedia.org]
  • Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery.[dictionary.sensagent.com]
  • Some people with AMS could also have very thin or sparse hair (alopecia); their skin appears to be wrinkled, dry, coarse, or thick; their fingers could also be webbed and with inadequate extension; the genitalia could have external malformations.[illnessopedia.org]
  • Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.[checkrare.com]
Absence of Subcutaneous Fat
  • Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.[uniprot.org]
Broad Nasal Bridge
  • RESULTS: A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly[ncbi.nlm.nih.gov]
  • Disease description A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.[uniprot.org]
  • Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.[genecards.org]
Bulbous Nose
  • Disease description A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.[uniprot.org]
  • Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.[genecards.org]
  • nose, macrostomia, and absence of mammary glands, To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS), BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve[personale.unimore.it]
Cognitive Deficit
  • A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects.[icd10data.com]

Treatment

  • [ edit ] Treatment usually involves plastic and reconstructive surgery.[en.wikipedia.org]
  • PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and literature review.[ncbi.nlm.nih.gov]
  • The literature about this condition is reviewed, and oculoplastic treatment is discussed.[ncbi.nlm.nih.gov]
  • Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments.[ncbi.nlm.nih.gov]
  • Treatment - Ablepharon macrostomia syndrome Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias. Resources - Ablepharon macrostomia syndrome[checkorphan.org]

Prognosis

  • Prognosis - Ablepharon macrostomia syndrome Not supplied. Treatment - Ablepharon macrostomia syndrome Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.[checkorphan.org]
  • Definition, Diagnosis, and Pathophysiology of Ablepharon Macrostomia Syndrome Causes, Evaluation, and Medical Assessment of Ablepharon Macrostomia Syndrome The Most Common Signs and Symptoms of Ablepharon Macrostomia Syndrome Complications, Prevalence, Prognosis[theteamwork.com]
  • Diagnosis and Prognosis: Pediatricians in consultation with medical geneticists are likely to make the diagnosis. Ophthalmologists can confirm the characteristics of the eyelid malformations and suggest therapy for drying of the cornea.[disorders.eyes.arizona.edu]
  • Apert Syndrome Prognosis Children with Apert syndrome usually require surgery for release of the skull bones to allow a chance for the brain to develop normally.[webmd.com]
  • Prognosis: Normal lifespan. Ancillary treatments and support: It would seem wise to do appropriate radiographic studies in all patients with premature closure of cranial sutures.[wohproject.org]

Etiology

  • Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology.[icd10data.com]
  • Etiology Craniosynostosis has been estimated to occur in 1:2000 to 1:2500 births.[www2.aofoundation.org]
  • Etiology Mutations in the fibroblast growth factor receptor ( FGFR ) genes cause Pfeiffer syndrome: FGFR1 (on chromosome 8p11.2-p11) and FGFR2 (on chromosome 10q26) [ 4 ].[ojrd.biomedcentral.com]

Epidemiology

  • From Epidemiology extremely rare Genetics may be autosomal recessive Clinical-manifestations absence or severe underdevelopment of the upper & lower eyelids ( ablepharon or microblepharon )* absence of eyelashes & eyebrows an unusually wide, 'fish-like[anvita.info]
  • ., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human[pubfacts.com]
  • Relevant External Links for TWIST2 Genetic Association Database (GAD) TWIST2 Human Genome Epidemiology (HuGE) Navigator TWIST2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TWIST2 No data available for Genatlas for TWIST2 Gene Setleis[genecards.org]
  • […] and infection in the ear Sleep apnea Reduction in the size of nasopharynx There are also some less common symptoms and they include: Oily skin with severe acne Fusion of spinal bones in neck Unusually heavy sweating An opening in the roof of the mouth Epidemiology[epainassist.com]
  • Epidemiology Pfeiffer syndrome affects about 1 in 100,000 individuals. Clinical description A craniosynostosis in association with short, broad thumbs and big toes are the major diagnostic clues for Pfeiffer syndrome.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Categories: A September 18, 2017 Ablepharon Macrostomia Syndrome – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 18, 2017 Definition, Diagnosis, and Pathophysiology of Ablepharon Macrostomia[theteamwork.com]
  • 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

  • Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.[ncbi.nlm.nih.gov]
  • TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation. [5] Because TWIST2 mediates mesenchymal stem cell differentiation [6] and prevents premature[en.wikipedia.org]
  • Categories: A September 18, 2017 Ablepharon Macrostomia Syndrome – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 18, 2017 Definition, Diagnosis, and Pathophysiology of Ablepharon Macrostomia[theteamwork.com]
  • Prevention - Ablepharon macrostomia syndrome Not supplied. Diagnosis - Ablepharon macrostomia syndrome Not supplied. Prognosis - Ablepharon macrostomia syndrome Not supplied.[checkorphan.org]
  • Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition. If you have any questions, please consulting with your doctor.[hellodoktor.com]

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