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OHDO syndrome − Say/Barber/Biesecker Type

Also known as: Ohdo Blepharophimosis

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Background

Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities (see entry Learning disability) associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis (drooping eyelids) and small teeth. Following this report, doctors from various countries have described children with similar problems. Currently, the term Ohdo syndrome is reserved for those individuals who have similarities to the patients reported by Say, Barber and Biesecker (SBB type) and in fact the original Ohdo patients may have had a different condition. The condition called Young-Simpson syndrome is so similar to the SBB type of Ohdo syndrome that many doctors consider them to be the same disorder.

Credits

Medical written January 2003 by Professor Dian Donnai, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. Last updated October 2010 by Professor J Clayton-Smith, Consultant Clinical Geneticist, Genetic Medicine, St Mary's Hospital, Manchester, UK.

What are the symptoms?

Affected children are usually very floppy at birth and have major feeding problems requiring tube feeding. They have generally decreased movements, particularly facial movements. Some, but not all, children have heart problems and some have an absent midline structure of the brain (absent corpus callosum; see entry Agenesis of the Corpus Callosum). When the teeth erupt they are often very small. Many older children have joint problems ranging from mild bending of the fingers to more severe hip disorders and problems with dislocation of the kneecap.

Progress in the first year of life is slow, and head control, sitting and walking occur late but ultimately, progress is often better than was anticipated at first. All children have mild-to-moderate learning difficulties (see entry Learning Disability). Thyroid problems (underactive or overactive) appear to occur with an increased incidence in Ohdo syndrome (see entry Thyroid disorders).

What are the causes?

The cause of Ohdo syndrome remains unknown and research is ongoing. A genetic cause is suspected.

How is it diagnosed?

The diagnosis of Ohdo syndrome remains a clinical one and is usually made by a clinical geneticist on the basis of the physical features, after exclusion of other causes. There are some other syndromes associated with blepharophimosis which have features that overlap with Ohdo syndrome SBB type and these include blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). There is no specific test for Ohdo syndrome as yet.

How is it treated?

There is no specific cure or treatment for Ohdo syndrome but a number of therapies may help at different stages of life. These include physiotherapy, occupational therapy and a detailed assessment of special educational needs. There should be regular review by a paediatrician and thyroid function should be checked every one to two years, or if symptoms develop.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most individuals with the typical signs of the SBB type of Ohdo syndrome have been the only affected child in their family other than one possible case of a parent-to-child transmission. Genetic counselling is recommended for families, however, so that other conditions can be ruled out. There is no specific prenatal diagnostic test for Ohdo syndrome.

Prenatal diagnosis
Recurrence risk seems to be very low. The risk for the offspring of affected individuals may be higher, approaching 50 per cent. Detailed ultrasound scanning in subsequent pregnancies, looking particularly for heart and brain defects and for hydramnios (an excessive amount of the fluid that the baby floats in whilst in the womb) due to impaired swallowing, may be offered.

Is there support?

Ohdo Syndrome Family Network

Tel: 01614 288583
Email: patseville@btinternet.com

The Network was established in 1997. It offers support and information and links families where possible. The Network is in touch with over 60 families, has a presence on Facebook.  

Group details last updated January 2013.

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