First boy’s presenting features When born, the first boy had a swollen body. He was also presenting sparse scalp hair, sparse eyebrow, webbed neck, hypertelorism, low-set dysplastic ear, generalized hypotonia. [3billion.io]

The blue boxes indicate the number of carrier patients detected and the syndromes they presented, the most frequent are marked with an asterisk (*). [revespcardiol.org]

Heart Congenital heart defects are present in over 75% of patients, with the most common heart defects being pulmonic stenosis and atrial or ventricular septal defects. [rarediseases.org]

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]

Standard Therapies Treatment The treatment of CFC syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

As Rodriguez-Marín observed,34 this more effective classification, supported by genomic assessment, can facilitate more targeted treatments. [revespcardiol.org]

In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]