Acronyms & Syndromes

Arnold-Chiari I deformity:
1. Small 4th ventricle (cerebral)
2. Cerebellar tonsils herniation (through foramen magnum)
3. Syringomyelia
4. C1 vertebra-cranium fusion

Arnold-Chiari II deformity:
1. Stenogyria (small but normal gyri)
2. Corpus callosum agenesis
3. Inferior displacement of tentorium
4. Inferior displacement of brainstem
5. Inferior displacement of cerebellum (vermian peg)
6. Beaked tectum (brainstem)
7. Elongated & kinked medulla
8. Elongated 4th ventricle
9. Small posterior fossa
10. Large foramen magnum
11. Myelomeningocele

AVN - Avascular necrosis
1. Kienbock's disease: AVN of the lunate
2. Panner's disease: AVN of the capitellum
3. Legg-Calve-Perthe disease: AVN of femoral head
4. Kohler disease: AVN of the navicular
5. Freiberg disease: AVN of the metatarsal head
6. Calve-Kummel-Verneuil disease: AVN of the vertebral body

Behcet's syndrome
Unknown aetiology, a chronic granulomatous disease. Female > Male
Triad:
1. Aphthous stomatitis
2. Genital ulcer
3. Ocular inflammation

Borchardt triad for Gastric Volvulus
1. Sudden onset severe epigastric pain
2. Intractable retching w/o vomitus
3. Inability to pass NG tube into the stomach

Carcinoid syndrome
1. Diarrhoea d/t hypersecretion & hypermobility
2. Paroxysmal flushing
3. Bronchospasm
4. Endocardial fibrosis
Occurs when carcinoid tumor metastasise to liver => excess serotonin goes into systemic circulation

CREST syndrome
1. Calcinosis
2. Raynaud phenomenon
3. Esophageal dysmotility
4. Sclerodactyly
5. Telangiectasia

CRITOE - Elbow ossification centres
1. Capitellum (1yo)
2. Radial head (3yo)
3. Internal (medial) epicondyle (5yo)
4. Trochlea (7yo)
5. Olecranon (9yo)
6. External (lateral) epicondyle (11yo)

Dandy-Walker syndrome:
1. Large 4th ventricle
2. Large posterior fossa
3. Torcular inversion
4. Inferior vermis agenesis
5. Hypoplastic cerebellar hemisphere
6. Absent falx cerebelli

Hajdu-Cheney syndrome:
Rare, Sporadic or Autosomal dominant
1. Acro-osteolysis
2. Osteoporosis
3. Joint laxity
4. Skull deformity
5. Short stature
Many more other systemic complications

Hand-Schuller-Christian disease
Triad of
1. Exopthalmos
2. Diabetes insipidus
3. Lytic skull lesion

Mafucci's syndrome:
1. Enchondromatosis
2. Haemangioma / Lymphangioma

Malgaigne fracture
Ischiopubic rami and ipsilateral SIJ fractures

McCune-Albright syndrome
1. Polyostotic fibrous dysplasia
2. Cafe-au-lait spots
3. Endocrine disorder

Multiple Endocrine Neoplasia (MEN) Syndrome 
General: Autosomal dominant

MEN 1 / Werner's syndrome:
1. Facial angiofibroma (multiple)
2. Pituitary tumor
3. HyperPTH
4. Thyroid adenoma
5. Adrenal adenoma
6. Foregut Carcinoid tumor
7. Pancreatic islet cell tumor
- Gastrinoma
- VIPoma
- Insulinoma
- Glucagonoma

MEN 2A / Sipple's syndrome:
1. Medullary Ca of Thyroid
2. Phaeochromocytoma
3. HyperPTH
(MPH)

MEN 2B/3
1. Marfanoid appearance
2. Mucosal neuromas (multiple) (GI tract)
3. Medullary CA of Thyroid
4. Phaeochromocytoma
(3MP)
5. Prognathism
6. Cutaneous neuromas

Nora's lesion
"Bizarre paraosteal osteochondromatosis proliferation"

Ollier's disease
1. Enchondromatosis
a/w
- Juvenile granulosa cell tumor of the ovary
- Madelung deformity

PARINAUD syndrome:
1. Vertical (upward) gaze palsy)
2. Pupillary abnormality (light-near dissociation)
3. Nystagmus (Convergence-retraction)
Due to mass compression on tectal plate - often pineal region tumor

PHACES syndrome:
1. Posterior fossa malformation
2. Haemangioma
3. Arterial anomalies
4. Cardiac defects
5. Eye anomalies
6. Sternal defects

SAPHO syndrome:
1. Synovitis
2. Acne (facial & upper back)
3. Pustulosis (palmar, plantar)
4. Hyperostosis
5. Osteitis

Sturge-Weber syndrome: (phakomatosis / neurocutaneous disorder)
1. Calcification along cerebral gyri
2. Cerebral atrophy
3. Vascular malformation involving the meninges
4. Vascular facial nevus
5. Glaucoma

ToRCHeS infection:
1. Toxoplasmosis
2. Rubella
3. Cytomegalo virus (CMV)
4. Herpes simplex virus (HSV)
5. Syphillis

Tuberous sclerosis: (phakomatosis / neurocutaneous disorder)
1. Subependymal giant cell astrocytoma
2. Multiple subependymal hamartoma
3. Adenoma sebaceum (brown-red facial papules)
4. Renal angiomyolipomas and renal cysts
5. Tubers (calcified lesions along the ventricles)

Turcot syndrome: Autosomal recessive
1. Colonic polyposis (malignant transformation likely)
2. CNS tumor especially Supratentorial glioblastoma, Medulloblastoma

VACTERL syndrome:
1. Vertebral anomalies
2. Anal atresia
3. Cardiovascular anomalies
4. TracheoEsophageal fistula
5. Renal anomalies
6. Limb anomalies

von Hippel-Lindau syndrome:
1. Hemangioblastoma (cerebellar tumor)
2. Islet cell tumor
3. Pheochromocytoma
4. Pancreatic cystadenoma
5. Epididymal cysts
6. Liver cysts
7. Retinal angioma
8. Renal cell CA, Renal cysts

WAGR syndrome:
1. Wilms tumor
2. Aniridia (iris hypoplasia)
3. Genital anomalies
4. mental Retardation