Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to.. Summary. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations.

Coffin Siris syndrome causes, symptoms, diagnosis, treatment & prognosis

Quali sono i sintomi della Sindrome di CoffinSiris?

Conoce el síndrome de Cofin Siris, una enfermedad ultrarara e incurable que afecta a 60 niños

SÍNDROME DE COFFIN SIRIS.

(PDF) Coffin Siris syndrome

¿Cuales son las causas del Síndrome De CoffinSiris?

SÍNDROME DE COFFIN SIRIS.

Heterozygosity for ARID2 lossoffunction mutations in individuals with a CoffinSiris syndrome

(PDF) Coffin Siris syndrome

De novo splice site variant of ARID1B associated with pathogenesis of CoffinSiris syndrome

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living with CoffinSiris Syndrome YouTube

Coffin Siris syndrome causes, symptoms, diagnosis, treatment & prognosis

Síndrome de CoffinSiris una enfermedad rara y complicada

Síndrome de CoffinSiris una enfermedad rara entre las raras

CoffinSiris Syndrome Symptoms, Causes, Diagnosis, Treatment, and Coping

Figure 1 from A comprehensive molecular study on CoffinSiris and NicolaidesBaraitser syndromes

Sindrome di CoffinSiris Diseasemaps

Enfermedades raras en bebés Síndrome de Coffin Siris

Identification of a novel BICRA variant leading to the newly described CoffinSiris syndrome 12

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet.. Synonyms: CSS. Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, hypotonia, microcephaly, sacral dimple, spina bifida occulta, scoliosis/kyphosis, cleft.