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Renpenning syndrome 1; Sutherland-Haan X-linked mental retardation syndrome; X-linked mental retardation syndromes MRXS3/MRXS8/MRX55
Epidemiology:
- males, little expression in females
Genetics:
1) X-linked
2) associated with defects in PQBP1 gene
Clinical manifestations:
1) mental retardation
2) microcephaly
3) short stature
4) small testes
5) craniofacies tends to be narrow & tall with
a) upslanting palpebral fissures
b) abnormal nasal configuration
c) cupped ears
d) short philtrum
6) nose may appear long or bulbous, with overhanging columella
7) less consistent manifestations
a) ocular colobomas
b) cardiac malformations
c) cleft palate
d) ana anomalies. RENS1 is more frequently in males than in females where little or no expression is found.
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 309500
References
OMIM :accession 309500