Syndromes / Pathologies Flashcards
What are the three types of Craniosynostosis syndromes?
Involves multiple sutures as part of a larger constellation of larger anomalies which are divided into 3 categories.
— Simple: 1 suture PREMATURELY fused or compound with 2 or more sutures.
— Primary versus Secondary which is caused by an unknown disorder.
— Isolated: has no other abnormality or syndrome
DiGeorge Syndrome?
What’s another name for it?
🧬🧬
DiGeorge syndrome 🧬
Velocardiofacial syndrome
**(DG are capitalized ~2, also 2 names)
A disorder caused by a defect in CHROMOSOME 22. 🧬🧬
MOST COMMON DELETION syndrome (AD)
While the genetic defect is the same in the majority of patients with DGS, they all do not present in the same way. For example, some patients with DGS have severe cardiac anomalies; some have none at all. Some have major learning disabilities; others have none. This is called PHENOTYPIC VARIABILITY. There is wide phenotypic variability in patients with DGS.
Papillon - Lefevre Syndrome
🧬 C✋🦶🦷
Rare autosomal recessive disorder. AR
It results from changes (alterations) of the CTSC gene that regulates production of an enzyme known as CATHEPSIN C.
Cathepsin C functions as a key enzyme in the ACTIVATION of GRANULE serine peptidases in inflammatory cells, such as elastase and cathepsin G in NEUTROPHILS cells and chymase and tryptase in MAST cells
Proteases are capable of degrading various extracellular matrix components, which can lead to TISSUE DAMAGE and CHRONIC INFLAMMATION.
typically becomes apparent from approximately ONE TO FIVE years of age.
Characterized by diffuse palmoplantar KERATODERMA 🤚🦶palmar-plantar hyperkeratosis
precocious aggressive PERIODONTITIS, leading to PREMATURE LOSS 🦷 of deciduous and permanent dentition at a very young age.
Cystic Fibrosis
🧬 💦 (3)
CYSTIC FIBROSIS
- 🧬 inherited in an autosomal RECESSIVE manner. (AR)
Cystic fibrosis affects the cells that produce MUCUS, SWEAT, and DIGESTIVE juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts, and passageways.
Rubenstein-Taybi syndrome
- Dental Findings
- Overall Findings
TAYBI - TALON
Rare, 🧬 Genetic
Oral/Dental Findings:
TALON CUSPS. (TAlon-TAybi)
HIGH PALATE.
Low-Hanging NASAL SEPTUM.
Overall Findings:
SHORT Stature.
🧠moderate to severe Intellectual Disability 🧠distinctive facial features
broad THUMBS and first TOES. (HALLUCES)
Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
T/F
Celiac disease is common comorbidity in Down’s Syndrome.
TRUE. ⬆️
The prevalence of celiac disease in children with Down syndrome (4% to 15%) is significantly HIGHER ⬆️ than in the general population (0.3% to 1.0%). The common presenting symptoms of celiac disease in children — diarrhea, bloating and distention, and fatigue
Oro-Facial-Digital syndrome
Most common type: Type 1 MOHR syndrome
OFD1 follows an X-linked dominant pattern of inheritance.
Prenatal male lethality in almost all cases.
In female patients, there is a very high degree of phenotypic variability.
ORAL: malformations in >95% (lobed tongue, tongue hamartomas or lipomas, ankyloglossia, cleft or highly arched palate, accessory gingival FRENULAE, missing (hypodontia, see this term) or extra teeth, enamel dysplasia, and malocclusion)
CRANIOFACIAL: abnormalities in about 87% including facial dysmorphism (ocular hypertelorism or telecanthus, hypoplasia of the alae nasi, median CLEFT or pseudocleft upper lip, micrognathia, downslanting palpebral fissures), abnormal hair/alopecia, evanescent facial milia.
DIGITAL: malformations in about 88% (brachydactyly, syndactyly, 5th finger clinodactyly, duplicated hallux/broad thumb, preaxial or postaxial polydactyly)
CNS: in about 50% including brain abnormalities (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) and mild to moderate intellectual deficit.
Lennox–Gastaut syndrome
a complex, rare, and SEVERE childhood-onset EPILEPSY.
It is characterized by multiple and concurrent SEIZURES types, COGNITIVE dysfunction, and slow spike waves on electroencephalogram (EEG).
it presents in children aged 3–5 years and can persist into adulthood. It has been associated with several gene mutations, perinatal insults, congenital infections, brain tumors/malformations, and genetic disorders such as tuberous sclerosis and West syndrome.
What is RETT syndrome?
RTT 🧬
RTT symptoms are often mistaken for ASD (Autism)
Rett syndrome was most often caused by a unique, relatively rare (1 in 10,000 births), a non-heritable GENETIC MUTATION of the MeCP2 gene. Because this gene is located on the X chromosome, it mainly affects FEMALES. Males, having only one X chromosome, rarely survive to birth.
Another unique trait in ASD is that children on the spectrum tend to prefer objects to people. This is opposite of RTT. With Rett syndrome, the preference is typically towards people. Children with ASD usually reject physical affection and those with RTT typically enjoy the attention.
Common Findings in Fetal Alcohol Syndrome?
Fetal alcohol syndrome usually occurs when a pregnant woman has more than four standard drinks per day.
Milder symptoms have been found with two drinks per day during the early part of pregnancy.
Classic features:
- Short Palpebral Fissure Lengths
- Smooth Philtrum
- Thin Upper Lip
Microcephaly
Short stature
+/- Cleft palate / lip
Chediak-Higashi syndrome
🎭 🚕 🎃 🔴
🎭 IMMUNITY DISORDER (AR)
“chedaki-taxi”
DEFECTIVE TRANSPORT 🚕 of bacteria to lysosome
INABILITY to KILL phagocytosed bacteria
🦷
SEVERE gingival inflammation
EARLY exfoliation of teeth 🎃
Albinism
Peripheral neuropathy
Evaluate HEMATOLOGIC 🔴 STATUS Prior to any treatment
TX:
Aggressive antibacterial therapy
Splenectomy
Bone marrow transplantation
***Most children with Chédiak–Higashi syndrome ultimately reach a stage known as the “accelerated phase”, or the “LYMPHOMA-LIKE syndrome”, in which defective white blood cells divide uncontrollably and invade many of the body’s organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.
What SYNDROMES are associated with EARLY EXFOLIATION
🎃
🦷-🦷
🎃
(Hyphen-syndromes) 🦷-🦷
Ehlers-Danlos Syndrome
Papillon-Lefevre Syndrome
Hajdu-Cheney Syndrome
Cherubism
(Endocrine)
Hypophosphatasia
Hypophosphatemia
Hyperthyroidism
(Immunological conditions)
Leukocyte Adhesion Deficiency
Prepubertal perfect
What Heart Defect is commonly found in Trisomy 21?
💔
AVSD
Atrioventricular septal defect
21..💔..AVSD
Patients diagnosed with Pierre Robin Sequence who has respiratory difficulties will often what procedure?
Glossopexy
(tongue‐lip adhesion) is a procedure in which the tongue is anchored to the lower lip and mandible to relieve the upper airway obstruction mainly in infants with Pierre Robin sequence.
Ellis Van Crevold
Chondro-Ectodermal dysplasia
- Short limb dwarfism,
- Additional fingers and/or toes (polydactyly)
- Abnormal development of fingernails
- Over half of the cases, congenital heart defects.
