Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and short stature. Many individuals with acrodysostosis have developmental delays and intellectual disability. Individuals with acrodysostosis additionally may have hormone resistance, which means that the body does not respond to the certain hormones.

There are two types of this disorder, characterized by the presence or absence of hormone resistance and the underlying genetic cause. Type 1 is caused by mutations in the PRKAR1A gene and may be associated with hormone resistance, whereas type 2 is caused by mutations in the PDE4D gene and is typically not associated with hormone resistance. Both types are inherited in an autosomal dominant manner, with most reported cases occurring for the first time in a family due to a new mutation.

Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism. While there is no cure for acrodysostosis, treatment is directed toward the specific symptoms in each individual and may require the coordinated efforts of a team of specialists.

The signs and symptoms found in individuals with acrodysostosis may include:

• Skeletal malformations: Short stature, short and malformed bones in the hands and feet, shortening of the bones in the arms and legs, abnormal curvature of the spine (scoliosis or kyphosis), and narrowing (stenosis) of the spaces within spine
• Distinctive facial features: Underdevelopment of the upper jaw (maxillary hypoplasia), underdevelopment of the nasal bone (nasal hypoplasia), a flattened or depressed nasal bridge, widely-spaced eyes (hypertelorism), low-set ears, and an extra fold of skin that may cover the inner corners of the eyes (epicanthal folds)
• Developmental delays and mild to moderate intellectual disability
• Resistance to multiple hormones including parathyroid hormone and thyroid stimulating hormone

Additional findings may include repeated middle ear infections, hearing loss, obesity, skin lesions, blue eyes, and red or blond hair. In some males, the opening of the urethra is on the underside of the penis rather than the tip (hypospadias) and/or the testes may fail to descend into normal position in the scrotum (cryptorchidism).