Young Simpson syndrome

Common Name(s)

Young Simpson syndrome

Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome ({249620}), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech (summary by {3:Clayton-Smith et al., 2011}). Genitopatellar syndrome ({606170}) is an allelic disorder with overlapping features.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Young Simpson syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Young Simpson syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
 

Author(s): D T Bonthron, K M Barlow, A M Burt, D G Barr

Journal: J. Med. Genet.. 1993 Mar;30(3):255-6.

 

In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant ...

Last Updated: 20 May 1993

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The terms "Young Simpson syndrome" returned 0 free, full-text review articles on human participants.

 
 
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