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Meier-Gorlin syndrome
Genetics:
- defects in CDC6 are the cause of Meier-Gorlin syndrome type 5
Clinical manifestations:
- bilateral microtia
- aplasia/hypoplasia of the patellae
- severe intrauterine & postnatal growth retardation with short stature & poor weight gain
- additional clinical findings include
- anomalies of cranial sutures
- microcephaly
- apparently low-set & simple ears
- microstomia
- full lips
- highly arched or cleft palate
- micrognathia
- genitourinary tract anomalies,
- various skeletal anomalies
- almost all cases have primordial dwarfism with substantial prenatal & postnatal growth retardation
- not all cases have microcephaly, & microtia
- absent/hypoplastic patella are absent in some. despite the presence of microcephaly
- intellect is usually normal
Related
nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 613805
References
OMIM :accession 613805