Treacher Collins Syndrome

(Mandibulofacial Dysostosis)

Downward slanting eyes (anti-mongoloid) 90%

Malar hypoplasia 81%

Micrognathia 78%

Hypoplastic (or absent) external ears 77%

Lower lid colobomas 69%

Conductive hearing loss 40%

NORMAL INTELLIGENCE

AD inheritance but ~60% of cases represent a new mutation

Hypopituitarism

Hypothyroidism

Ectodermal Dysplasia

Apert Syndrome

Gardner Syndrome

Cleidocranial Dysostosis

X-Linked Hyperphosphatemic Rickets

Rett's Syndrome

Incontinentia Pigmenti Type 2

Aicardi Syndrome

CATCH-22

• Cardiac
• Abnormal facies
• Thymic aplasia (leads to T-cell immune deficiency)
• Cleft palate
• Hypocalcemia (2° to hypoparathyroidism)
• 22q11 deletion (FISH analysis +ive in 85%)

Late-onset hypocalcemia (~1 week of life)

Add'l features: hypothyroidism and GH deficiency

Pseudohypoparathyroidism

(Albright's Hereditary Osteodystrophy)

End organ (Bone/Kidney) resistance to PTH

↓Calcium

↑Phosphorus

↑PTH

Maternally transmitted GNAS1 mutation

• Round facies
• Short stature
• Short digits
• Obesity
• Developmental Delay

Normal tissue response to PTH, so:

Normal Calcium, phosphorus and PTH levels

Physical findings of pseudohypoparathyroidism (AHO)

• Round facies
• Short stature
• Short Digits
• Obesity
• Developmental Delay

• Early-onset Hypercalcemia
• Etiology unclear (Normal PTH, Vitamin D levels)
• Typically transient, self-limited
• Cocktail Party personality
• Elfin facies
• Developmental Problems (IQ 50-70)
• Supravalvular Aortic Stenosis
• Dx'ed by FISH - 7q11