He had facial dysmorphism suggestive of Noonan syndrome
including frontal bossing, downslanting palpebral fissures, thick lips, anteverted nose, low-set and posteriorly rotated ears and short webbed neck withlow posterior hairline, dental caries, thoracic deformation with pectus excavatum, hypospadias, cryptorchidism, fingers' hyperlaxity, valgus flat feet, loose excess skin on hands and heart murmur (Figure 1).
Vander Burgt I; Noonan syndrome
Orphanet J Rare Dis--2007; 2: 4.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome
and five patients with cardio-facio-cutaneous syndrome.
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
The Toronto group found that 'excessive activity of an enzyme called ERK, a downstream target of the RAS pathway, caused HCM in Noonan Syndrome
, and successfully used a drug that lowers the activity of this enzyme to decrease pathway activity and normalize all of the features of Noonan Syndrome
', said Neel.
Psychological profile of children with Noonan syndrome
Charcot-Marie-Tooth disease and Noonan syndrome
with giant proximal nerve hypertrophy.
The Noonan Syndrome
was the first recognized, in 1968; the others are cardio-facio-cutaneous, LEOPARD, and Costello.
is a genetic condition that can affect the heart, growth, blood clotting, as well as mental and physical development.
Daniel also has Noonan Syndrome
, a genetic condition which affects the heart and causes speech and development problems.
It has been reported that two fetuses with nuchal thickening and a subsequent probable diagnosis of Noonan syndrome
were associated with a positive Down syndrome screen related to decreased AFP and increased hCG (16).