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 (as measured front to back), 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 (as measured front to back), 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 (dwarfism, short stature)
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 (ASD)
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 (ASD)
Aortic Coarctation
Middle Aortic Syndrome (MAS) Coarctation of abdominal aorta Bradycardia
Bicuspid aortic valve

Causes
Acrodysostosis is believed to be caused by mutations in the PRKAR1A gene (type 1) or the PDE4D gene (type 2). It has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission.
It also can be the result of surgical repair to the mitral valve, when very small emboli may break away from the site of the repair, while the patients tissue grows to cover the plastic annuloplasty band.Quinidine toxicity can lead to cinchonism and also to quinine amaurosis. Management
Those experiencing amaurosis are usually advised to consult a physician immediately as any form of vision loss, even if temporary, is a symptom that may indicate the presence of a serious ocular or systemic problem. In animals
This condition can also occur in ruminants suffering from a vitamin B1 (thiamine) deficiency due to thiamine-related cerebrocortical necrosis (CCN). == References ==