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Blepharophimosis - Intellectual Disability Syndrome Type Verloes

Blepharophimosis with Facial and Genital Anomalies and Mental Retardation


Presentation

  • Syndactyly of the fingers is sometimes present as well. Clefting of the soft and hard palates is commonly present and a few patients have had joint contractures. Hearing loss of all types has been reported. Mental development seems to be normal.[disorders.eyes.arizona.edu]
  • Type 3: In Klein-Waardenburg syndrome or pseudo-Waardenburg syndrome, dystopia canthorum is not present, but one-sided ptosis of the upper eyelid and upper limb anomalies are present.[emedicine.medscape.com]
  • Affected subjects generally present a very similar behaviour with sociable and good natured disposition.[jmg.bmj.com]
  • Like the patients reported by Tzschach and the DDD patient, there were no major malformations present.[nature.com]
  • Verloes type Blepharophimosis-intellectual disability syndrome type V Prevalence: Inheritance: Unknown Age of onset: Infancy , Neonatal ICD-10: Q87.8 OMIM: 604314 UMLS: C1858538 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented[orpha.net]
Disability
  • Syndrome Wiedemann-Steiner Syndrome X-Linked Intellectual Disability, Cabezas Type X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome X-Linked Intellectual Disability, Siderius Type Zimmermann-Laband[familydiagnosis.com]
  • […] type; Ohdo Blepharophimosis syndrome; Young Simpson syndrome; Say Barber Biesecker Young-Simpson syndrome; SBBYS syndrome; Blepharophimosis-intellectual disability syndrome See More Blepharophimosis intellectual disability syndromes refers to a group[rarediseases.info.nih.gov]
  • Most array-CGH studies focused on patients with moderate or severe intellectual disability. Studies on genetic etiology in children with mild intellectual disability (ID) are very rare.[link.springer.com]
  • Homepage Rare diseases Search Search for a rare disease Blepharophimosis-intellectual disability syndrome, Verloes type Disease definition Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies[orpha.net]
  • This may explain its role in several differentX-linked intellectual disability syndromes that share some over-lapping clinical features.[docslide.com.br]
Multiple Congenital Anomalies
  • Homepage Rare diseases Search Search for a rare disease Blepharophimosis-intellectual disability syndrome, Verloes type Disease definition Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies[orpha.net]
  • congenital anomalies: a new series of 140 patients and review of published reports.[link.springer.com]
  • The FG syndrome: An X-linked recessivesyndrome of multiple congenital anomalies and mental retardation.Z Kinderheilkd 117:118.Prontera P, Ottaviani V, Isidori I, Stangoni G, Donti E. 2012. Xq12q13.3duplication: Evidence of a recurrent syndrome.[docslide.com.br]
  • General manifestations Along with congenital sensorineural deafness, multiple congenital anomalies are associated with this syndrome. The widely spaced medial canthi (dystopia canthorum) are characteristic of WS1.[emedicine.medscape.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • Physicians, Nurse Practitioners and PAs, already on Doximity.[doximity.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]
  • Years Published 1993, 1998, 2005, 2007, 2017 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]
  • In addition, the popular impression of dysmorphology as an art successfully practiced only by those endowed with an unusual ability to recognize a particular gestalt may intimidate those physicians who are more comfortable with the science of medicine[emedicine.medscape.com]
Feeding Difficulties
  • difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves.[mendelian.co]
  • […] bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epicanthus inversus 0000537 Feeding[rarediseases.info.nih.gov]
  • Significant features, which predicted whether a pathogenic KAT6B variant would be found, were the presence of hypotonia, thyroid abnormalities, patellar abnormalities, long thumbs and great toes, feeding difficulties and dental anomalies.[nature.com]
  • The natural history of KOS also appears rather constant, particularly during the neonatal period, with respiratory distress and laryngeal stridor, and growth retardation—the latter mainly ascribed to feeding difficulties due to poor sucking, pylorospasm[jmg.bmj.com]
Recurrent Respiratory Infections
  • respiratory infections Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Regional abnormality of skin Motor delay Narrow mouth Osteopenia Blepharophimosis Microtia Short palpebral[mendelian.co]
Skin Ulcer
  • ulcer Abnormality of the nail Broad forehead Astigmatism Nevus Abnormality of the ureter Sparse hair Neurological speech impairment Abnormality of the kidney Triangular face Hypohidrosis Bilateral single transverse palmar creases Abnormality of dental[mendelian.co]
Sparse Eyelashes
  • eyelashes Abnormal dermatoglyphics Palmoplantar hyperkeratosis Aplasia/Hypoplasia of the eyebrow Abnormality of the ear Hypoplasia of the zygomatic bone EEG abnormality Bilateral cleft lip and palate Sparse lateral eyebrow Dystrophic toenail Bilateral[mendelian.co]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Smooth philtrum 0000319 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Stenosis of the external auditory canal Narrowing of passageway from outer ear to middle ear 0000402 Thin vermilion border Decreased[rarediseases.info.nih.gov]
Ptosis
  • Synonyms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome BPES blepharophimosis syndrome Subdivisions of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome BPES Type I BPES Type II General Discussion Blepharophimosis, ptosis, and epicanthus[rarediseases.org]
  • Intellectual Disability with Dysmorphic Facies and Ptosis Clinical Characteristics Ocular Features: The eyes appear widely spaced and the lid fissures slant downward. Ptosis and blepharophimosis are present. Strabismus is an uncommon feature.[disorders.eyes.arizona.edu]
  • Syndrome Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome Blepharophimosis With Ptosis, Syndactyly, And Short Stature Bohring-Opitz Syndrome Brachydactyly-Preaxial Hallux Varus Syndrome Brachytelephalangy-Dysmorphism-Kallmann Syndrome[familydiagnosis.com]
  • Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids ( ptosis[rarediseases.info.nih.gov]
  • Our patients clearly differ from these two syndromes as they have the classical Ohdo features ptosis and blepharophimosis, while the tall forehead, macrocephaly, and broad thumbs and halluces as seen in Lujan-Fryns and FG syndrome and the typical small[ashg.org]
Hearing Impairment
  • NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b;cmt6b Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Generalized hypotonia Hearing impairment[mendelian.co]
  • impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of teeth 0000685 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intellectual disability, severe Early and[rarediseases.info.nih.gov]
  • Consistent with this finding, Ube3b / mice exhibit a severely reduced bodyweight and size, decreased growth rate, muscular hypotonia, mild hearing impairment, and a reduced total cholesterol value, recapitulating several key features of KOS. 12 Of note[jmg.bmj.com]
  • Upper airway narrowing and hearing impairment are major issues during infancy. These infants are prone to obstructive sleep apnea and sudden infant death syndrome.[emedicine.medscape.com]
Aggressive Behavior
  • behavior Oxycephaly Hypoplasia of the corpus callosum Cleft lip Postaxial polydactyly Feeding difficulties Sensorineural hearing impairment Short foot Broad face Low posterior hairline Protruding ear Telecanthus Webbed neck Ptosis Cutaneous finger syndactyly[mendelian.co]
  • Males with FG syndrome can have significant externalizingbehaviors and are at increased risk for aggressive behavior becauseof their deficits in communication skills [Graham et al., 2008].Since most males with FG syndrome have poor GI motility andconstipation[docslide.com.br]
Bulbous Nose
  • Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth[orpha.net]
  • nose 0000414 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat[rarediseases.info.nih.gov]
  • Disease description A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth.[uniprot.org]
  • nose Cleft upper lip Aggressive behavior Oxycephaly Hypoplasia of the corpus callosum Cleft lip Postaxial polydactyly Feeding difficulties Sensorineural hearing impairment Short foot Broad face Low posterior hairline Protruding ear Telecanthus Webbed[mendelian.co]
  • Figure 2 2 a, 2 b, 2 c, 2 d show individuals 24, 20, 25 and 7 who all have sequence variants within KAT6B and show typical facial features of blepharophimosis, mask-like face, small mouth and bulbous nose with depressed nasal tip. 2e shows the facial[nature.com]
Round Face
  • Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth[orpha.net]
  • Ohdo syndrome isactually a heterogeneous group of disorders characterized byintellectual disability and distinctive facial features, which includeblepharophimosis, ptosis, a round face with a characteristic nose,and a small mouth (Table I, Fig. 3).[docslide.com.br]
Prominent Occiput
  • occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Proteinuria High urine protein levels Protein in urine [ more ] 0000093 Ptosis Drooping upper eyelid 0000508 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046[rarediseases.info.nih.gov]
Tremor
  • Hypoplastic nipples Ectodermal dysplasia Freckling Camptodactyly Finger syndactyly Hyperhidrosis Dry skin Hypodontia Clinodactyly Abnormality of dental morphology Alopecia Abnormality of the dentition Sparse scalp hair Hyporeflexia Myoclonus Broad thumb Tremor[mendelian.co]
Pendular Nystagmus
  • nystagmus Shawl scrotum Short nose Broad foot High forehead Muscular hypotonia of the trunk Deep palmar crease Multiple lipomas Infantile muscular hypotonia Dextrocardia Flat occiput Narrow palpebral fissure Preaxial polydactyly Bilateral cryptorchidism[mendelian.co]
Cryptorchidism
  • […] and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Breast carcinoma and Midface retrusion. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Cryptorchidism[mendelian.co]
  • […] tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Blepharophimosis Narrow opening between the eyelids 0000581 Bulbous nose 0000414 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Cryptorchidism[rarediseases.info.nih.gov]
  • Male patients show cryptorchidism and scrotal hypoplasia.[uniprot.org]
  • Another individual with typical ocular and systemic features of BPES in addition to cryptorchidism, developmental delay, and syndactyly, was found to have a mutation in the gene KAT6B in the absence of mutations in FOXL2 .[disorders.eyes.arizona.edu]
  • Genital anomalies, usually cryptorchidism, was universal in males with KAT6B sequence variants and tended to be more severe in GPS, where the genitalia may be ambiguous.[nature.com]

Workup

Liver Biopsy
  • Cholestasis from bile duct obstruction developed and paucity of bile ducts were seen on liver biopsy. Severe obstructive sleep apnea, periodic respirations and central apnea were noted on polysomnography.[medcraveonline.com]

Treatment

  • Treatment Treatment Options: No effective treatment has been reported.[disorders.eyes.arizona.edu]
  • Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients.[rarediseases.org]
  • Philip, MD Assessment of Response to Open-label Treatment With Varenicline in Psychiatric Inpatients Start of enrollment: 2007 Oct 01 Philip, N.S.,Price, L.H.[doximity.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]
  • Surgical treatment is usually directed toward correcting craniosynostosis, and facial abnormalities may be corrected using the Tessier procedure.[emedicine.medscape.com]

Prognosis

  • Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Clin Genet. 2014;85(3):233-44.[gad-bfc.org]
  • Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528. Tzschach, A ; Chen, W ; Erdogan, F ; Hoeller, A ; Ropers, H H ; Castellan, Claudio ; Ullmann, R ; Schinzel, A (2008).[zora.uzh.ch]

Etiology

  • A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype.[ncbi.nlm.nih.gov]
  • Altogether, array-CGH helped to determine the etiology of ID in 14 patients ( 21 %).[link.springer.com]
  • Etiology Treacher Collins syndrome is inherited as an autosomal dominant trait with variable expressivity and high penetrance. A recessive form has also been described.[emedicine.medscape.com]
  • This finding linkedMED12 to neuronal gene expression,and these mutations to the etiology of the XLID syndromes.GRAHAM AND SCHWARTZ 2739These MED12 mutations explain more than the cognitive dys-function in these XLID syndromes.[docslide.com.br]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Relevant External Links for FAT4 Genetic Association Database (GAD) FAT4 Human Genome Epidemiology (HuGE) Navigator FAT4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FAT4 No data available for Genatlas for FAT4 Gene Identification of[genecards.org]
  • Hagberg B, Kyllerman M (1983) Epidemiology of mental retardation—a Swedish survey. Brain Dev 5:441–449 PubMed CrossRef Google Scholar 12.[link.springer.com]
  • Journal of Epidemiology and Community Health, 1994, 48:290-296. 1993 Costello syndrome and facio-cutaneous-skeletal syndrome. Philip N , Mancini J. American Journal of Medical Genetics, 1993, 47:174-175.[germaco.net]
Sex distribution
Age distribution

Prevention

  • If the appliance fails to prevent obliquity of the occlusal plane, then elongation of the ramus or mandibular distraction is indicated at age 6-12 years during mixed dentition.[emedicine.medscape.com]

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