Presentation
Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. The documents contained in this web site are presented for information purposes only. [orpha.net]
[…] lng=en&Expert=1074 part of http://www.orpha.net/ORDO/Orphanet_1071 present in http://www.orpha.net/ORDO/Orphanet_409991 Term relations [ebi.ac.uk]
Ankyloblepharon filiforme adnatum: presentation of a case. Martínez-Ortiz A, Garrido-Contreras V, Pérez-Martínez A, Ardanaz-Aldave A, Zubieta-Garciandía A, Elso-Tartas J. Martínez-Ortiz A, et al. [pubmed.ncbi.nlm.nih.gov]
Systemic features are presentation of sarcoidosis with fever, parotid enlargement. [eophtha.com]
Entire Body System
- Short Stature
Systemic features are hypotrichosis ,dyscephaly, short stature. [eophtha.com]
OMIM:619103 Short Stature And Facioauriculothoracic Malformations Cleft upper lip, High palate, Cleft palate OMIM:609654 Hypertelorism, Microtia, Facial Clefting Syndrome Cleft upper lip, Narrow mouth, Ectopic kidney, Cleft palate OMIM:239800 Congenital [mousephenotype.org]
- Trisomy 21
Down syndrome Trisomy 21, 1 in 650 live births,, musculoskeletal abnormalities, congenital heart disease, Dejean Syndrome (Orbital Floor Syndrome) Ocular features are enophthalmos, exophthalmos, lid hematoma,diplopia due to displacement of the globe orrestricted [eophtha.com]
- Pallister-Hall Syndrome
OMIM:614294 Pallister-Hall Syndrome Cleft palate, Ambiguous genitalia, Umbilical hernia, Small scrotum, Anal atresia, Precocious pube... [mousephenotype.org]
- Multiple Congenital Anomalies
ORPHA:3380 Linear Skin Defects With Multiple Congenital Anomalies 1 Anal atresia, Chordee, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Ovotestis... [mousephenotype.org]
Gastrointestinal
- Nausea
[…] irritability, headaches, impaired judgment at approximately 15,000 feet, confusion, cyanosis, muscular incoordination and possible loss of consciousness at approximately 18,000–20,000 feet, exertional dyspnea, epistaxis, gum bleeding, hemoptysis, anorexia, nausea [eophtha.com]
- Vomiting
Anosmia, headache, dizziness, vomiting, memory loss, psychic changes, also may be caused by an olfactory groove tumor (usually a meningioma)or pituitary adenoma. [eophtha.com]
Skin
- Blister
OMIM:146510 Recessive Dystrophic Epidermolysis Bullosa Inversa Oral mucosal blisters, Urethral stricture, Vaginal stricture, Carious teeth, Esophageal stricture ORPHA:79409 Premature Ovarian Failure 18 Hypoplasia of the uterus, Hypoplasia of the ovary [mousephenotype.org]
Amendola Syndrome: Blisters around eyebrows, entropion, ectropion, trichiasis, iritis. Systemic features are fevers and chills. [eophtha.com]
Urogenital
- Urinary Incontinence
[…] vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... [mousephenotype.org]
- Incontinence
Multicystic kidney dysplasia, Meningocele ORPHA:2031 Meckel Syndrome, Type 2 Renal cyst, Meningocele OMIM:603194 Müllerian Duct Anomalies-Limb Anomalies Syndrome Uterus didelphys, Hypoplasia of penis ORPHA:2491 Camptobrachydactyly Septate vagina, Urinary incontinence [mousephenotype.org]
Neurologic
- Agitation
[…] blindness (predominantdefects in the sphere of psychic elaborationrather than in primary visual perception),complete cortical blindness, central scotomata,pupillary paresis, retinal atrophy, optic atrophy.Systemic features are confusion, irritability and agitation [eophtha.com]
- Clumsiness
[…] optokinetic nystagmus,metamorphopsia, defective color vision,convergence insufficiency, muscle imbalance,refractive errors, low accommodative converge/accommodation associated with decreasedvisual acuity and contrast sensitivity.Systemic features are general clumsiness [eophtha.com]
Workup
It is crucial for a clinically astute ophthalmologist to be aware of these syndromes to initiate necessary workup for more sinister lesions associated with certain ocular findings. [eophtha.com]
Treatment
[…] filiforme congénito congenital filiform ankyloblepharon | filiform ankyloblepharon IATE - Health IATE - Health síndrome de anquilobléfaron filiforme congénito con ano imperforado Aughton Hufnagle syndrome SNOMEDCT-ES (trastorno) / 773770009 SNOMEDCT-ES (treatment [wordscope.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prevention
Volume 15 (90). 09 Jul 2013 ( PDF) Vol 15 (89) Utilization of malaria prevention methods by pregnant women in Yaounde [Research] Calvin Ebai Bisong, Clemence Meli Dongmo PAMJ. [panafrican-med-journal.com]