Autosomal recessive OTFCS type 2 is characterized by:
Ear malformation, affecting external, middle, and/or inner ear with or without hearing loss.
Facial dysmorphism, characterized by small forehead, down slanting palpebral fissures, wide spaced eyes, epicanthic folds, small nose, wide mouth, microtia, preauricular fistulas, low set ears, transverse facial cleft, facial asymmetry.
Skeletal abnormalitiesinclude short neck, bilateral protruding shoulders, winged scapula, clavicle abnormalities, vertebral segmentation defects, scoliosis, kyphosis.
Endocrine manifestation – hypoparathyroidism, hypothyroidism, undescended testis.
Short stature
Variable intellectual disability
Variable immunodeficiency due to thymic aplasia or hypoplasia leading to severe combined immunodeficiency or combined immunodeficiency.
PAX1