syndomes Flashcards
NF1
skin tumours eyes musculoskeletal - scoliosis developmental delay puberty
Kleinfelters
- Eunochoid habitus
- Gynaecomastia
- Scant body hair
- Small testes
- Tall stature
- Behavioural
- Low/normal IQ - intellectual disability rare
- CHD - ASD, PDA
- Oesteoporosis
Fragile X
• CGG triplet repeat • Most common inherited cause of intellectual disability • Low IQ, behavioural issues/autistic features • Developmental delay • Anxiety • ADHD Vision cardiac - connective tissue type
prader willi
Features
• Hypotonic + FTT
• Mild-mod ID + dev delay
• Overeat –> obesity
Other
• growth hormone deficiency/short stature,
• small hands and feet,
• scoliosis,
• sleep disturbances with excessive daytime sleepiness,
• high pain threshold,
• speech apraxia/dyspraxia, and infertility.
• Behavioural difficulties may include obsessive-compulsive symptoms, skin picking, and difficulty controlling emotions
Angelman syndrome
• Features ○ Movement disorder § Hypertonic, hyperreflexic § Ataxia § May have subtle tremor ○ Severe ID + developmental delay ○ Microcephaly + Epilepsy ○ Happy excitable demeanor § Frequent smiling, laughter, hand flapping ○ Feeding problems § Poor suck § Reflux § Constipation • Other ○ Drooling ○ Strabismus ○ Scoliosis ○ Fair skin, light fair ○ Difficulty sleeping
Achondroplasia
autosomal dominant skeletal - short stature - long bone shortening - brachydactyly = kyphoscoliosis - tibial bowing Facial - Nadal nose - macrocepahly - frontal posing Development - delayed motor early on but gets better by 2-3 Normal cognition
Issues
- recurrent otitis
- OSA
- Obesity
- spinal stenosis
- cervical meduallary compression
Cornelia de lange
• Growth ○ Microcephaly ○ Growth delay • Appearance ○ Synophrys (unibrow) ○ Thin downturning upper lip ○ Long curly eyelashes ○ Proximally placed thumbs §Abnormalities of bones in arms, hands, fingers ○ Up turned nose ○ Small chin Development ○ Developmental delay + intellectual disability ○ Behavioural problems + autistic features Systems ○ Hearing loss ○ Cleft ○ May have feeding and breathing issues ○ Approx 20% have seizures ○ Can have heart defects ○ Eye problems
allagile
Body System Hepatic Cardiac Branch/peripheral pulmonary stenosis 70% § TOF § ASD/VSD § AS Facial Ocular Skeletal Renal - RTA, ectopic CNS - dev delay Other - FTT, pancreatic insufferable
craniosynostosis syndromes
skeletal neuro - ID Ears Heart Gut Kidneys Cleft Airway and sleep issues - OSA Dental
Beckwith weideman
○ macrosomia ○ Hemihypertrophy ○ Macroglossia § May impact breathing ,swallowing, speaking ○ Omphalocelle ○ Hyperinsulinaemia ○ Enlarged abdominal organs ○ Multifocal/bilateral wilms tumours ○ Creases or pits near ears risk of wills, rhabdomyosarcoma and hepatoblastoma
Fanconi anaemia
- Bone marrow failure
- Strabismus
- Low set ears + deafness
- Sbnormal thumbs or absent thumbs
- Hypopigmentation or café au alit
- Microcephaly
- Short stature
- Horseshoe kidney
Diamond Blackfan
• 'marocytic anaemia • Growth ○ Short • Craniofacial abnormalities ○ Macrocephaly ○ Cleft • Thumb abnormalities • Cardio ○ ASD, VSD • Urogenital • Leukaemia
Shwachman-diamond syndrome
• Pancreatic insufficiency ○ Poor growth • Bone marrow dysfunction ○ Neutropenia, anaemia, • Skeletal abnormalities ○ Dysplasia ○ Osteoporosis
Tuberous Sclerosis
• Genetics ○ TSC2 tuberin 60% - more severe ○ TSC1 hamartin 20% • CNS ○ Cortical tubers ○ subependymal nodules/astrocytoma (visible by 6months of age) ○ Cause § Seizures § Intellectual disabilities § Behaviour problems • Facial ○ Angiofibromas (appear at 3-4yrs of age) ○ Forehead plaque • Ungal/periungal fibroma • Skin changes ○ Ash leaf macule (>3) ○ Shagreen patch (appear 2-6yrs of age) • Retinal hamartoma • Cardiac ○ Rhabdomyomas 50% (occur before 1yr) ○ Arrthymias • Renal 80% ○ Angiomyolipomas ○ Cysts ○ Cause § Pain § Haematuria § Angios can progress to carcinomas • Pulmonary ○ Lymphangiomyomatosis
Ataxia telangiectasia
○ Ataxia telangiectasia
○ Occular aprxia
○ Telangiectasia (scleral, sun exposed)
○ Primary immune deficiency (usually hypogamma)
○ Pulmonary: bronchiectasis, intersitial
○ Cancer predisposition: leukaemia
○ Insulin resistant diabetes
