Congenital disease

autosomal dominant condition associated with de-innervation and results in weakness of feet and ankle muscles with gradual ascension to involve mid-thigh=

pes cavus deformity, weakness of the lower leg with loss of muscle bulk in the calves bilaterally but normal strength of the thigh muscles. Knee and ankle reflexes are lost but there is no sensory loss initiakky

• autosomal dominant
• small intestinal polyps are hamartomas and not adenomas.
• premalignant condition but the risk is low
• can present as anaemia in childhood
• circumoral pigmented lesions

• Hypoglycaemia
• Macrosomia
• Congenital abnormalities: Talipes; Congenital heart defects; Polycythaemia; Hypocalcaemia; sacral agenesis
• Birth injuries/shoulder dystocia.

Low AFP

High AFP

• AR, #5
• Anterior horn cell disease
• Fasciculations seen best in the resting tongue
• Fibrillation potentials in EMG
• Denervation pattern on a muscle biopsy.
• Absent/decreased tendon reflexes
• Generalised weakness

• Huntington's disease
• Myotonic dystrohpy
• Fragile X syndrome
• Friedreich's ataxia.

• Associated with peri natal
• sepsis, dehydration, shock. asphyxia

XLR

AD

AD

XLR

Micrognathia; upper airway obstruction

• Osteopenia causing:
•    excessive bone fragility
•    recurrent fractures
•    hearing impairment
•    blue sclerae.

AD

AR

AR

AR

AR

Vertebral defects, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal anomalies, and Limb anomalies