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otopalatodigital syndrome type 2

MIM.304120 Xq28

Friday 9 December 2005

X-linked dominant disease. Majority of patients are stillborn or die before 5 months of age. Milder manifestations in heterozygous females (broad face, down-slanting palpebral fissures, and cleft palate).


- systemic anomalies

- craniofacial anomalies

- skeletal anomalies

- opmphalocele
- hypospadias
- cryptorchidism
- hydronephrosis

- cerebral anomalies


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

  • as in otopalatodigital syndrome type 1 (type I OPD syndrome or OPD1) (MIM.311300)

Allelic disorder with FLNA mutations

- otopalatodigital syndrome type I (OPD1) (MIM.311300)
- frontometaphyseal dysplasia (FMD) (MIM.305620)
- Melnick-Needles syndrome (MNS) (MIM.309350)
- periventricular heterotopia (MIM.300049)