Home > D. General pathology > Genetic and developmental anomalies > otopalatodigital syndrome type 2
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).
Synopsis
systemic anomalies
- height
- short stature
- postnatal growth retardation
craniofacial anomalies
- large anterior fontanel
- prominent forehead
- severe micrognathia
- midface hypoplasia
- low-set ears
- conductive hearing loss
- posteriorly rotated ears
- hypertelorism
- down-slanting palpebral fissures
- flat nasal bridge
- small mouth
- cleft palate
skeletal anomalies
- respiratory failure
- narrow chest
- pectus excavatum
- thin, wavy clavicles
- wavy, short ribs
- dysharmonic bone maturation
- late closure of large anterior fontanel
- wide sutures
- midface hypoplasia
- vertical clivus
- small mandible
- sclerotic skull base
- wormian bones
- flattened vertebrae
- spondylolysis
- congenital hip dislocation
- hypoplastic ilia
- dense long bones
- radial bowing
- ulnar bowing
- femoral bowing
- tibial bowing
- small (fibular hypoplasia) to absent fibula (fibular agenesis)
- subluxed elbow, wrist, and knee
- flexed fingers, overlapping fingers
- short, broad thumbs
- postaxial polydactyly
- syndactyly
- second finger clinodactyly
- hypoplastic, irregular metacarpals
- tree-frog hands
- short halluces, broad halluces, short and broad halluces
- syndactyly
- nonossified fifth metatarsal
- rocker-bottom feet
- tree-frog feet
- hypoplastic metatarsals (metatarsal hypoplasia)
opmphalocele
hypospadias
cryptorchidism
hydronephrosis
cerebral anomalies
- mental retardation
- hydrocephalus
Etiology
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)
