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Cornelia De Lange Syndrome (CdLs)
Long eyelashes, bushy eyebrows and synophrys. Body hair can be excessive and affected individuals are often shorter than their immediate family members.
Disorder affecting the metabolism of bilirubin, that results in an inherited form of non-hemolytic jaundice, and often leads to brain damage in infants.
Carpal Tunnel syndrome
Compression of the median nerve through the carpal tunnel, pain and parasthesia over distribution of the median nerve.
Decrease in phagocytosis which results in recurrent pyogenic infections, partial albinism and peripheral neuropathy
Pain in chest with tenderness over one or more costochondral junctions.
GI-Polyps with diffuse alopecia (hair-loss) and nail dystrophy. May see protein-losing enteropathy and malabsorption.
Hypersecretion of cortisol, fatness of face and trunk with wasting of extremities, buffalo hump, bone decalcification, corticoid diabetes, hypertension.