Feingold syndrome

Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


合計: 5

                       


（表示件数）
PMID (PMCID)
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Clinically, this patient has the characteristic digital anomalies and short stature often seen in Feingold syndrome-2 with less common features of a congenital heart defect and hearing loss.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
26360630
 MALE
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM.
Am J Med Genet A. 2015;167A(12):3219-25.
Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.
15930908
 MIXED_SAMPLE Child
Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.
Shaw-Smith C, Willatt L, Thalange N.
Clin Dysmorphol. 2005;14(3):155-8.
We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome.