Acrodysostosis
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Signs and symptoms
Acrodysostosis presents with a wide spectrum of clinical manifestations. The following is a list of conditions and complications associated with acrodysostosis.Bone issues
- Skeletal dysplasia
- Brachydactyly
- Advanced bone age
- Bone plate fusing
- Scoliosis
- Pain – joint, hip, lower back, wrist
Endocrine
- Hypothyroidism
- Hypoparathyroidism
- Pseudohypoparathyroidism
- Vitamin D deficiency
- Thyroid cysts
- Type 1 diabetes
Behavioural / Developmental / Emotional
- Autism Spectrum Disorder
- Childhood Apraxia of Speech
- Cognitive impairment
- Sensory issues
- Gross motor delays
- Fine motor delays
Craniofacial and dental
- Cranial frontal nasal syndrome Midface hypoplasia
- Depressed nasal bridge
- Retrognathia
- Glossoptosis
- High palate
- Mandibular distraction surgery Jaw surgery
- Underbite
- Chalky teeth
- Overcrowded teeth
- Early eruption of adult teeth
- Small, unaligned teeth
Cardiology
- Hypertension
- Atrial Septal Defect
- Aortic Coarctation
- Middle Aortic Syndrome Coarctation of abdominal aorta Bradycardia
- Bicuspid aortic valve
Causes
Acrodysostosis is believed to be caused by mutations in the PRKAR1A gene or the PDE4D gene. It has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception.A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance.