Edit concept Question Editor Create issue ticket

Blepharofacioskeletal Syndrome

BRSS


Presentation

  • Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties.[malacards.org]
  • Hypospadias was present in three of six male patients.[researchgate.net]
  • This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.[ncbi.nlm.nih.gov]
  • Mitochondrial disorders such as LHON may present with dystonia.[neuroweb.us]
  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[springerpub.com]
Fishing
  • Karyotype (G banding at level of 500 – 750 band resolution) and FISH (N25 probe, Cyto- cell 1 ) for the Velocardiofacial syndrome micro- deletion were normal.[researchgate.net]
  • Chronic Fatigue Syndrome/Myalgic Encephalomyelitis Chronic Inflammatory Demyelinating Polyneuropathy Chronic Intestinal Pseudo-obstruction Chronic Lymphocytic Leukemia Chronic Myelogenous Leukemia Churg Strauss Syndrome Cicatricial Alopecia Ciguatera Fish[arrayit.com]
Inguinal Hernia
  • Hernia Inguinal Hernia Convergent strabismus; congenital hip dislocation Low stature and OFC Low stature and OFC Abnormal thorax C, clinodactyly; S, syndactyly; SC, simian crease; SCP, submucous cleft palate; NR, not recorded or noted by pictures; B,[researchgate.net]
High Arched Palate
  • We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation.[researchgate.net]
  • Craniofacial dysmorphism included a wide anterior fontanelle, bitemporal narrowing, short upslanting palpebral fissures with mild ptosis, prominent eyes, strabismus, thickened narrowed nares, high-arched palate, thickened alveolus, thin upper lip with[nature.com]
Microstomia
  • Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. Am J Med Genet 1994; 51:222-223. Tasman W, Jaeger E, eds. Duane's clinical ophthalmology. Philadelphia: JB Lippincott, 1990.[dentisty.org]
  • […] long-chain, medium-chain, short-chain),mitochondrial 山口 清次 144 32 adenine phosphoribosyltransferase deficiency 谷口 敦夫 148 33 adenosine deaminase deficiency 谷口 敦夫 150 34 adrenoleukodystrophy 鈴木 康之 152 35 agnathia-holoprosencephaly 中村美保子 154 36 agnathia-microstomia-synotia[nippon-rinsho.co.jp]
Hip Dislocation
  • dislocation Low stature and OFC Low stature and OFC Abnormal thorax C, clinodactyly; S, syndactyly; SC, simian crease; SCP, submucous cleft palate; NR, not recorded or noted by pictures; B, bilateral; L, left; R, right ; CP, cleft palate; ICD, inner[researchgate.net]
Foot Deformity
  • She had camptodactyly of the third and fourth fingers bilaterally and foot deformities.[nature.com]
Small Palpebral Fissures
  • Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. The distribution of the affected members in the pedigree was compatible with autosomal dominant inheritance with high penetrance.[researchgate.net]
Behavior Disorder
  • Attention deficit hyperactivity disorder MedGen UID: 220387 • Concept ID: C1263846 • Mental or Behavioral Dysfunction A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention,[ncbi.nlm.nih.gov]
  • disorder Rasagiline Rasmussen syndrome Recurrent hypersomnia Recurrent meningitis Reducing body myopathy Reflex anoxic seizures Regeneration and repair in the CNS Rhinosinus-related headache Rhombencephalosynapsis Riluzole Rivastigmine Rocky Mountain[medlink-blog.com]
Thin Lips
  • The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.[ncbi.nlm.nih.gov]
Language Delays
  • delay þ NR NM NM NM — — — — — Learning difficulties No learning disability No learning disability Expressive language delay Additional feature Low stature and OFC Low stature and OFC Tetralogy of Fallot; Inguinal Hernia Inguinal Hernia Convergent strabismus[researchgate.net]

Workup

Hypsarrhythmia
  • […] etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia[researchgate.net]

Treatment

  • Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. Treatment Treatment is supportive and symptomatic.[ninds.nih.gov]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[springerpub.com]
  • […] with neurotrophic factors Neurogastroenterology Neurologic disorders of aging Neuropathic pain: treatment Neuroproteomics Neurotrophic factors Neurotrophic factors for treatment of neurotrauma Neurovascular injuries Nimodipine Nonketotic hyperglycinemia[medlink-blog.com]
  • Finding the genes responsible for Parkinson’s disease could give scientists a leg up in developing future treatments.[brainfacts.org]
  • Treatment - Blepharo facio skeletal syndrome Not supplied. Resources - Blepharo facio skeletal syndrome[checkorphan.org]

Prognosis

  • Prognosis COFS is a fatal disease. Most children do not live beyond five years. x Prognosis COFS is a fatal disease. Most children do not live beyond five years. Prognosis COFS is a fatal disease. Most children do not live beyond five years.[ninds.nih.gov]
  • Prognosis - Blepharo facio skeletal syndrome Not supplied. Treatment - Blepharo facio skeletal syndrome Not supplied. Resources - Blepharo facio skeletal syndrome[checkorphan.org]
  • The prognosis is usually bad with survival rates less than a few years after onset.[neuroweb.us]
  • Degeneration of 90% or more has been shown to predict poor prognosis without surgical intervention. [29, 19] A study by Azuma et al indicated that ENoG results can predict the development of facial synkinesis.[emedicine.medscape.com]

Etiology

  • Etiology Etiology is unknown. Genetic counseling Transmission is autosomal dominant with variable expressivity . Last updated: 1/1/2014[rarediseases.info.nih.gov]
  • 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.[researchgate.net]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology Bell palsy A common entity of facial nerve paralysis is Bell palsy, which is unilateral and is considered to be of idiopathic etiology.[emedicine.medscape.com]

Epidemiology

  • Epidemiology SRS has been described in 18 individuals to date. Its prevalence is unknown.[rarediseases.info.nih.gov]
  • Learn about the impacts that child poverty has on the developing brain with data from the fields of psychology, neuroscience, and public health epidemiology.[brainfacts.org]
  • […] syncope Duchenne muscular dystrophy Duloxetine Dysarthria Dysphagia Dysplastic gangliocytoma of the cerebellum Electrical injuries: neurologic complications Emery-Dreifuss muscular dystrophy Encephalitis lethargica Endocrine neuroimmunology Entacapone Epidemiology[medlink-blog.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Facial nerve injury can be complete or partial. Generally, partial disruption of axonoplasmal flow reveals a greater chance of complete functional recovery.[emedicine.medscape.com]

Prevention

  • Prevention - Blepharo facio skeletal syndrome Not supplied. Diagnosis - Blepharo facio skeletal syndrome Not supplied. Prognosis - Blepharo facio skeletal syndrome Not supplied. Treatment - Blepharo facio skeletal syndrome Not supplied.[checkorphan.org]
  • Currently showing 271-280 Get Update Bernard-Soulier syndrome type C Disease Type: Genetic, autosomal recessive Congenital onset Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person[diseaseinfosearch.org]
  • Studies are underway to determine how effective NRF2 activation could be in preventing damage caused by degenerative diseases.The hope is that NRF2 can be used as a tool to slow down nerve damage and nerve cell death by protecting nerve cells such as[nrf2.com]
  • […] journal of medical genetics 34 (4), 548-551 , 1989 Composição florística da comunidade infestante em gramados de Paspalum notatum no município de Assis, SP CDG Maciel, JP Poletine, CJR Aquino, DM Ferreira, RMD Maio Planta daninha, 57-64 , 2008 Oral cleft prevention[repositorio.unesp.br]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!