Rishi Desai, MD, MPH

Treacher Collins syndrome

Wikipedia

First Aid 

Chapter 25 Genetic Mutations  SURGERY Chronic rhinitis ▪ Polyp removal  OTHER INTERVENTIONS  ▪ Smoking cessation ▪ Pneumococcus, inﬂuenza vaccination  Bronchiectasis ▪ Daily chest physiotherapy  TREACHER COLLINS SYNDROME osms.it/treacher-collins-syndrome PATHOLOGY & CAUSES ▪ Severe genetic disorder of craniofacial development ▪ AKA mandibulofacial dysostosis, Franceschetti–Zwahlen–Klein syndrome ▪ Inheritance pattern: autosomal dominant, variable penetrance; 60% spontaneous  CAUSES  ▪ TCOF1 gene mutation (chromosome 5q32) → treacle protein (ribosome biogenesis regulator) insufﬁciency → neuroepithelial cell apoptosis → ↓ neural crest cells → ﬁrst, second branchial arch anomalies → cranioskeletal hypoplasia ▪ Other genetic mutations: POLR1C (6q21.2), POLR1D (13q12.2); involved in ribosome biogenesis  COMPLICATIONS  ▪ Perinatal death; bilateral conductive hearing loss; speech problems; airway compromise; feeding difﬁculties; visual loss; brachycephaly; choanal atresia; congenital heart defects; intellectual disability; renal malformation  SIGNS & SYMPTOMS ▪ Facial bone hypoplasia (esp. mandible, zygomatic bone): retrognathia, sunken cheeks ▪ Facial asymmetry ▪ Projection of scalp hair to lateral cheek ▪ Dental: high/arched/cleft palate; malocclusion, tooth agenesis, enamel opacities ▪ Ocular: downslanting eyelids, lower eyelid coloboma, paucity of eyelashes medial to notch, hypertelorism (widely spaced eyes) ▪ Malformation of external ear, external auditory canals, middle ear ossicles  DIAGNOSIS DIAGNOSTIC IMAGING Cranial X-ray, orthopantomogram, CT scan ▪ Facial bone hypoplasia, altered middle ear ossicles, external auditory canal stenosis  OTHER DIAGNOSTICS  ▪ History, clinical examination ▪ Prenatal: amniocentesis, chorionic villus sampling  OSMOSIS.ORG 167   

Nuclear structure

DNA structure

Transcription of DNA

Translation of mRNA

Gene regulation

Epigenetics

Amino acids and protein folding

Protein structure and synthesis

Nucleotide metabolism

DNA replication

Lac operon

DNA damage and repair

Cell cycle

Mitosis and meiosis

DNA mutations

Molecular biology

Lesch-Nyhan syndrome

Orotic aciduria

Adenosine deaminase deficiency

Xeroderma pigmentosum

Li-Fraumeni syndrome

Bloom syndrome

Fanconi anemia

McCune-Albright syndrome

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

Disorders of molecular biology

Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)

Gel electrophoresis and genetic testing

ELISA (Enzyme-linked immunosorbent assay)

Karyotyping

DNA cloning

Fluorescence in situ hybridization

Laboratory techniques

Mendelian genetics and punnett squares

Hardy-Weinberg equilibrium

Inheritance patterns

Independent assortment of genes and linkage

Evolution and natural selection

Population genetics

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Fragile X syndrome

Huntington disease

Myotonic dystrophy

Friedreich ataxia

Turner syndrome

Klinefelter syndrome

Prader-Willi syndrome

Angelman syndrome

Beckwith-Wiedemann syndrome

Cri du chat syndrome

Williams syndrome

Alagille syndrome (NORD)

Achondroplasia

Polycystic kidney disease

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Marfan syndrome

Multiple endocrine neoplasia

Neurofibromatosis

Tuberous sclerosis

von Hippel-Lindau disease

Albinism

Cystic fibrosis

Gaucher disease (NORD)

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V

Hemochromatosis

Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Krabbe disease

Leukodystrophy

Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Primary ciliary dyskinesia

Phenylketonuria (NORD)

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)

Alpha-thalassemia

Beta-thalassemia

Wilson disease

Alport syndrome

X-linked agammaglobulinemia

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Hemophilia

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

Mitochondrial myopathy

Autosomal trisomies: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Miscellaneous genetic disorders: Pathology review

Genetic disorders

Genetics

Treacher Collins syndrome

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