A to Z of syndromes

A-Z of syndromes: Achondroplasia

Part one of a new series for students looking at disorders and diseases with common symptoms that constitute a syndrome.
Ellie Simmonds

Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.

It can be inherited as an autosomal dominant genetic condition. A parent with the condition has a 50% chance of passing it on to their children. Although most children with achondroplasia have parents of average height, it occurs because of a sporadic genetic mutation and is responsible for 75-80% of affected children.

Age factor

Advancing paternal age may be a causative factor. If both parents are affected, the outcome can be poor with high infant mortality.

Individuals are short; a typical face with large to above average size head, small midface and a flat nasal ridge. They

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Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.


British Paralympic swimming champion Ellie Simmonds has achondroplasia, a condition that affects adult height. Picture credit: Getty

It can be inherited as an autosomal dominant genetic condition. A parent with the condition has a 50% chance of passing it on to their children. Although most children with achondroplasia have parents of average height, it occurs because of a sporadic genetic mutation and is responsible for 75-80% of affected children.

Age factor

Advancing paternal age may be a causative factor. If both parents are affected, the outcome can be poor with high infant mortality.

Individuals are short; a typical face with large to above average size head, small midface and a flat nasal ridge. They may have a prominent forehead and lower jaw.

Other skeletal anomalies can include a small foramen magnum at the base of the skull and spinal curvatures such as kyphosis or lordosis. The IQ is unaffected and individuals have usual life expectancy. It does not affect particular genders or races.

Antenatal screening can identify the syndrome before birth. Prenatal ultrasound can measure fetal bone length, and fetal DNA can be sampled to detect the gene’s presence.

There is no pharmacological treatment. In some cases, bone lengthening has been successful, but the variety and range of these surgeries indicate there is no single preferred method. The process is complex, painful and can mean long rehabilitation, affecting a child’s schooling.

Nurses may meet children with achondroplasia as a result of repeated ear infections or for orthopaedic management. More rarely, young children with the syndrome can be admitted to hospital to manage cord compression because of the stenosis of the foramen magnum or for management of hydrocephalus.

Support    

Nurses can support children by promoting self-esteem, valuing the child as a unique individual, and prioritising equality and diversity policies.

Individuals who have achondroplasia include British four-time Paralympic swimming champion and multiple world record holder Ellie Simmonds, and Peter Dinklage who plays Tyrion Lannister in the television series Game of Thrones.

Case study

Marie-Anne was born with achondroplasia, to parents of average height. There were some bonding issues, and breastfeeding did not go particularly well. Marie-Anne was bright and engaging, met her milestones, but repeated ear infections caused diminished hearing.

Her parents considered bone lengthening, but decided against. Despite her hearing loss Marie-Anne was seen as one of the brightest pupils during early schooling, but grades dropped at secondary school and sometimes she seemed reluctant to attend, finding excuses to stay at home. The school nurse rang her parents and they discussed bullying, which was addressed. Her parents enrolled her in pony riding classes to address her self-esteem, and she excelled because of her natural balance and agility. She began competing and joined the Pony Club, representing her region and later competing for her university team.

 


Further resources


Doreen Crawford is senior lecturer in nursing and midwifery at De Montfort University, Leicester and Annette Dearmun is divisional head of governance and nursing (children and women’s division) at Oxford University Hospitals NHS Trust

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