Acrodysostosis

Alternative names:

acrodysplasia; Arkless-Graham; Maroteaux-Malamut

Symptoms:

• mild to moderate growth deficiency
• mental deficiency in approximately 90% of affected children
• short head, measured front to back (brachycephaly)
• small, broad, upturned nose with flat nasal bridge
• protruding jaw
• frequent middle ear infections
• short arms and legs with deformities of the hands and feet
• may have other abnormalities of the skin, genitals, teeth, and skeleton (sometimes)

Signs and tests:

Examination of the infant confirms the symptoms and signs of this disorder.