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Genitopatellar syndrome

Orpha number ORPHA85201
Synonym(s) Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual disability
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterized by the association of absent patellae, genital anomalies, dysmorphic features (coarse face, large nose, microcephaly), renal anomalies (multicystic kidneys or hydronephrosis), and intellectual deficit. It has been described in seven children (six boys and one girl) from five unrelated families. Constant skeletal manifestations include flexion deformities of the knees and hips, club feet, and absent patellae. Boys present with scrotal hypoplasia and cryptorchidism. This condition is transmitted as an autosomal recessive syndrome. Prenatal ultrasound detection of microcephaly and renal anomalies is feasible. Prognosis is poor.


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Detailed information

Clinical genetics review
  • EN (2013)
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