X-linked dominant genetic disease.
Synopsis
systemic anomalies
craniofacial anomalies
- hirsute forehead
- coarse hair
- delayed closure of fontanel
- small facies
- prominent hirsute forehead
- full cheek
- micrognathia
- prominent supraorbital ridge
- large ears
- recurrent otitis media
- exophthalmos
- hypertelorism
- strabismus
-
cleft palate
- malaligned teeth
- delayed tooth eruption
- long neck
cardiovascular anomalies
recurrent respiratory infections
pulmonary hypertension
skeletal anomalies
- narrow shoulders
- pectus excavatum
- irregular ribbon-like ribs
- short clavicles
- short scapulae
- small mandible with obtuse angle
- hypoplastic coronoid process
- dense skull base
- delayed paranasal sinus development
- tall vertebrae
- kyphoscoliosis
- anterior concavity of thoracic vertebrae
- coxa valga
- iliac flaring
- hip dislocation
- short upper arms
- bowing of humerus
- bowing of radius
- bowing of ulna
- bowing of tibia
- metaphyseal flaring of long bones
- genu valgum
- limited elbow extension
- short distal phalanges
- cone-shaped epiphyses
- acroosteolysis
- club feet
- pes planus
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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