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Acrodysostosis

Field	Value
name	Acrodysostosis syndrome
synonyms	Arkless-Graham syndrome, Maroteaux-Malamut syndrome
caption	Child with 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 (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. 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.

Treatment

There are currently no approved treatments or standardised treatment guidelines for acrodysostosis. Management of acrodysostosis typically focuses on addressing specific symptoms that occur in each individual and may include surgery, physical therapy and special education.

Research

A number of transgenic mouse models have been generated that harbour genetic mutations within genes linked to the condition in humans. These mouse models exhibit phenotypes similar to that observed in Acrodysostosis in humans.

Media

The actress Olivia Colman partnered with the charity Acrodysostosis Support and Research to raise awareness for the disease. She participated in a promotional video campaign in December 2020.

References

(1967). "An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses?". Am J Roentgenol Radium Ther Nucl Med.
(1968). "[Acrodysostosis]". Presse Med.
{{WhoNamedIt. synd. 1623
"Acrodysostosis".
"What is acrodysostosis?".
"Acrodysostosis".
"What is acrodysostosis?".
"OMIM Clinical Synopsis – #101800 – ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1". Johns Hopkins University.
(June 2011). "Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance". N. Engl. J. Med..
"Acrodysostosis". National Organization for Rare Disorders (NORD).
"Mouse Genome Informatics site". The Jackson Laboratory.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

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