Bohring-Opitz syndrome

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Total: 3

                       


(per page)
PMID (PMCID)
27901041
 MIXED_SAMPLE Infant
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Huffmeier U, Busa T, Beck-Woedl S, Faivre L, Riviere JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Ludecke HJ, Wieczorek D.
Eur J Hum Genet. 2017;25(2):183-191.
to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities.
28229513
(5487276)
 MIXED_SAMPLE Infant
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP, , Tvrdik T, MacArthur DG, Mao R.
Hum Mutat. 2017;38(5):517-523.
Exome sequencing of a 6-year-old female patient with seizures, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS).
22419483
 MIXED_SAMPLE Infant
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.
Am J Med Genet A. 2012;158A(4):917-21.
Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities.