In addition to ACS, the patient harbouring a homozygous deletion presented with central apnoea, a phenotype that has not been previously reported in ACS patients. [iths.pure.elsevier.com]

It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter‐ and intra‐familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. [ingentaconnect.com]

He presented with QME, micrognathia,and prominent cheeks (Fig. 1Biiv). [documents.tips]

It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. [bv.fapesp.br]

• Asymptomatic

  The malformation is generally asymptomatic but can cause recurrent atelectasis, pneumonia, stridor or wheezing (when associated with tracheal stenosis). [sites.uclouvain.be]

• Wound Infection

  infection; scarring; bony malunion Tracheotomy 5-22 Definitive airway treatment option if >1 level of obstruction exists or if not a candidate for other interventions. [clinicaladvisor.com]

• Pneumonia

  The malformation is generally asymptomatic but can cause recurrent atelectasis, pneumonia, stridor or wheezing (when associated with tracheal stenosis). [sites.uclouvain.be]

  […] monophosphate hydrolase deficiency Uridine monophosphate synthetase deficiency Urocanic aciduria Urofacial syndrome Urticaria - deafness - amyloidosis USH1 USH2 USH3 Usher syndrome type 1 Usher syndrome type 2 Usher syndrome type 3 Usual interstitial pneumonia [csbg.cnb.csic.es]

• Failure to Thrive

  In severe cases of mandibular hypoplasia, glossoptosis may lead to upper respiratory tract obstruction, with mortality as high as 30%, due to the combined effects of malnutrition, airway obstruction, and failure to thrive. 37, 38 General anesthesia can [ajnr.org]

  […] to thrive - microcephaly due to ASXL3 deficiency Severe generalized RDEB Severe generalized recessive dystrophic epidermolysis bullosa Severe hemophilia A Severe hemophilia B Severe infantile axonal neuropathy with respiratory failure Severe intellectual [csbg.cnb.csic.es]

• Macrostomia

  Underdevelopment of the pharynx can also narrow the airway. [11] Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate, hypertelorism, notched upper [en.wikipedia.org]

  […] deafness, encephalopathy, and Leigh-like syndrome 3MC syndrome + 47, XYY Syndrome 49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]

  Flores-Garcia Cruz-Rivera syndrome Macrocephaly - alopecia - cutis laxa - scoliosis Macrocephaly - cutis marmorata telangiectatica congenita Macrocephaly-autism syndrome Macrocephaly-capillary malformation syndrome Macrodactyly of fingers, unilateral Macrostomia [csbg.cnb.csic.es]

• Jaundice

  […] corneal dystrophy type I Granular corneal dystrophy type II Granular corneal dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green jaundice [csbg.cnb.csic.es]

• Hearing Impairment

  Affiliated tissues include bone, and related phenotypes are stenosis of the external auditory canal and bilateral conductive hearing impairment UniProtKB/Swiss-Prot : 76 Auriculocondylar syndrome 3: A craniofacial malformation syndrome characterized by [malacards.org]

  Name Auriculocondylar Syndrome 3 Synonyms - Classification bone, developmental, genetic, otorhinolaryngological, surgical maxillo-facial Phenotypes Autosomal recessive inheritance ; Bifid uvula ; Bilateral conductive hearing impairment ; Full cheeks ; [mousephenotype.org]

  Genes related to Auriculocondylar Syndrome 2; Arcnd2 PLCB4 Clinical Features Top most frequent phenotypes and symptoms related to Auriculocondylar Syndrome 2; Arcnd2 Global developmental delay Generalized hypotonia Pica Hearing impairment Micrognathia [mendelian.co]

  Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. Epidemiology So far, ACS has been reported in six multigenerational families. [rarediseases.info.nih.gov]

  Anomaly of the external auditory meatus or hearing impairment was not observed. Orthopantomograph revealed hypoplasia of the condyle, ramus, and body of the mandible with accentuation of the antegonial notch on the right side [Figure 3]. [jisppd.com]

• Visual Impairment

  […] syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic tibiae - postaxial polydactyly Hypoproconvertinemia Hypoprothrombinemia Hypothalamic hamartoblastoma syndrome Hypothalamic insufficiency-secondary microcephaly-visual [csbg.cnb.csic.es]

• Fracture

  Jaw problems include Fractures Dislocations Temporomandibular joint dysfunction Osteonecrosis, which happens when your bones lose their blood supply Cancers Treatment of jaw problems depends on the cause. [medlineplus.gov]

  Treatment of condylar fracture using a functional appliance in a 6-year-old child. Facial Orthop Temporomandibular Arthrol 1986;3:3-5. 10. Chate RA. The propellant unilateral magnetic appliance (PUMA): A new technique for hemifacial microsomia. [mjdrdypu.org]

  […] folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal dysostosis type 5 TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [centogene.com]

  […] type Spondyloepiphyseal dysplasia, Maroteaux type Spondylometaphyseal dysplasia - cone-rod dystrophy Spondylometaphyseal dysplasia with enchondromatous changes Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, 'corner fracture [csbg.cnb.csic.es]

• Aggressive Behavior

  behavior syndrome X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Index to Diseases and Injuries References found for the code Q87.0 in the Index to Diseases and Injuries: Whistling face - Q87.0 Tower skull - Q75.0 with [icdlist.com]

• Psychomotor Retardation

  Autosomal recessive bestrophinopathy Autosomal recessive centronuclear myopathy Autosomal recessive cerebellar ataxia - cognitive defect Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit Autosomal recessive cerebellar ataxia - psychomotor [csbg.cnb.csic.es]

• Prominent Cheeks

  Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. [malacards.org]

  Additional findings may include prominent cheeks, microstomia, and glossoptosis. read more [ctgt.net]

  Part A DOI: 10.1002/ajmg.a.34337 Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible [semanticscholar.org]

• Pierre Robin Syndrome

  Background Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome. [emedicine.medscape.com]

  Oto-palato-digital syndrome, type I Oto-palato-digital syndrome, type II Pallister W syndrome Pelviscapular dysplasia Peripheral axonal neuropathy Perlman syndrome Pierre Robin sequence faciodigital anomaly syndrome Port-wine stain of skin Prieto Badia [icdlist.com]

  Pierre Robin sequence (PRS; also known as Robin sequence, Robin complex, Pierre Robin syndrome, Pierre Robin triad, or Robin anomalad) is a constellation of congenital abnormalities that includes glossoptosis, micrognathia, and cleft palate. [clinicaladvisor.com]

  Piebaldism Pierre Robin sequence - congenital heart defect - talipes Pierre Robin sequence - fetal chondrodysplasia Pierre Robin sequence - hyperphalangy - clinodactyly Pierre Robin syndrome - congenital heart defect - talipes Pierre Robin syndrome - [csbg.cnb.csic.es]

• Vertigo

  see Ménière disease AUH defect, see 3-methylglutaconyl-CoA hydratase deficiency aural vertigo, see Ménière disease auricular fibrillation, see familial atrial fibrillation auriculo-condylar syndrome auriculobranchiogenic dysplasia, see craniofacial [mygenomics.com]

What are the adverse effects associated with each treatment option? See Table I for treatment options and associated adverse effects. Table I. [clinicaladvisor.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

The treatment modalities for mandibular condylar hypoplasia vary dependent on the age of the patient. [mjdrdypu.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Prognosis: As PRS typically affects airway and feeding, success in managing these two aspects determines prognosis. [clinicaladvisor.com]

[…] hearing loss [5] Causes Genetic [5] Diagnostic method Based on symptoms, X-rays, genetic testing [3] Differential diagnosis Nager syndrome, Miller syndrome, hemifacial microsomia [3] Treatment Reconstructive surgery, hearing aids, speech therapy [6] Prognosis [en.wikipedia.org]

These individuals typically have a normal lifespan, though the prognosis varies depending on the severity of the systemic associations. 1. Goldenhar M. [jisppd.com]

Maternal diabetes, Rubella, and influenza have also been suggested as possible etiological factors. [14], [15] In our case, the etiology appears unclear and there was no history of maternal drug intake, any febrile illness during pregnancy. [jisppd.com]

In this review of the topic is analyzed the etiology, classifications, characteristics and treatment. Keywords: Goldenhar syndrome; Maxillofacial abnormalities; Jaw abnormalities. [go.gale.com]

Etiology and Pathogenesis Frequency This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1, except in the X-linked form. Etiology Autosomal recessive inheritance is possible. [emedicine.medscape.com]

It was not associated with any soft tissue aberrations suggestive of any syndromic etiology. Aplasia is a rare anomaly and refers to the insufficient development of the mandibular condyle. True agenesis of the mandibular condyle is extremely rare. [jmedsoc.org]

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 PLCB4 Genetic Association Database (GAD) PLCB4 Human Genome Epidemiology (HuGE) Navigator PLCB4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PLCB4 No data available for Genatlas for PLCB4 Gene cDNA sequence [genecards.org]

Butler Community College Health, Education, and Public Services Division Denise LaKous Revised Spring 2014 Implemented Fall 2015 Textbook Update Fall 2015 COURSE OUTLINE Pathophysiology Course Description More information NEWBORN METABOLIC SCREEN, MINNESOTA [healthdocbox.com]

[…] occurs in all newborn infants by 48-72 hours after birth, this is probably due to lack of free Vit K from the mother More information Inborn Errors of Metabolism Intensive Care Nursery House Staff Manual Inborn Errors of Metabolism INTRODUCTION and PATHOPHYSIOLOGY [docplayer.net]

Pathogenesis Three pathophysiological theories exist to explain the occurrence of Pierre Robin sequence. The mechanical theory: This theory is the most accepted. [emedicine.medscape.com]

Familiarity with craniofacial embryology and its associated effects on resultant anatomy also leads to a better understanding of the pathophysiologic basis of craniofacial syndromes. [ajnr.org]

CASE REPORT Year : 2009 | Volume : 27 | Issue : 2 | Page : 121-124 Craniofacial features in Goldenhar syndrome 1 Department of Pedodontics and Preventive Dentistry, Vishnu Dental College and Hospital, Bhimavaram - 534202, Andhra Pradesh, India 2 Department [jisppd.com]

This will enhance our ability to counsel patients and families, and holds great promise for identifying biological pathways that could be modified to treat and perhaps prevent craniosynostosis. Read a detailed abstract from the NIH's RePORT website. [seattlechildrens.org]

As the therapy of choice to correct the conductive hearing loss and prevent middle ear complications, tympanostomy tubes are usually inserted when the palatoplasty is performed. [emedicine.medscape.com]

The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division. [mybiosource.com]