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Melnick-Needles syndrome

 

X-linked dominant genetic disease.

Synopsis

-  systemic anomalies

-  craniofacial anomalies

-  cardiovascular anomalies

-  recurrent respiratory infections
-  pulmonary hypertension

-  skeletal anomalies

-  omphalocele (males)
-  hydronephrosis
-  ureteral stenosis

-  skin hyperlaxity (males)

-  delayed motor development
-  abnormal gait

Etiology

-  germline mutations in the gene encoding filamin A (FLNA) (MIM.300017)



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