Galobi-Ito-Halls Syndrome; Sutherland-HaanSyndrome; RENS1; Hamel Cerebropalatocardiac Syndrome; Porteous Syndrome; X-Linked Intellectual Deficit, Renpenning type

Renpenning syndrome is a disorder the almost exclusively affects males causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. It is caused by a mutation on the PQBP1 gene at the chromosome locus Xp11.23. This gene provides instructions to make polyglutamine-binding protein. This protein plays a role in processing and transporting RNA and is needed for normal brain development.

Diagnostic testing: Genetic testing revealing abnormality in PQBP1 gene is needed to diagnose Renpenning syndrome.

Physical findings: Characteristic physical findings for Renpenning syndrome include:

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  Short stature;

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  Microcephaly (abnormally small head size);

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  Long, narrow face;

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  Outside corners of eyes that slant up (upslanting palpebral fissures);

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  Long bulbous nose with a low-hanging separation between the nostrils (overhanging columella);

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  Shortened philtrum (space between the base of the nose and mouth);

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  Seizures; and

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  Atrophy of skeletal muscles.

About 20 percent of individuals with this disorder also have other features, which may include:

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  Cup-shaped ears;

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  Small testes;

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  Coloboma (malformation of the eye);

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  Cleft palate (opening in the roof of the mouth);

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  Heart abnormalities; and

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  Anal malformations.

ICD-9: 758.9

ICD-10: Q87.5

By age 3, the individuals are noted to have regression in mental ability and physical changes. The head stops growing, there is severe muscle wasting, and the face elongates. The individuals are often described as cachectic, and mean IQ is around 30.

Life expectancy is not significantly shortened, though there are some case reports of some individuals dying at an early age. The intellectual disabilities do not improve.

There is currently no cure for Renpenning syndrome.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Positive genetic testing documenting abnormality in PQBP1 gene; and

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  Neuropsychological testing documenting intellectual disability.

Suggested Listings for Evaluation:

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