Cohen syndrome

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
29634382
 FEMALE Infant
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.
Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS.
Ophthalmic Genet. 2018;39(3):399-404.
A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome.
15333397
 FEMALE Adult
The anesthetic management of a patient with Cohen syndrome.
Meng L, Quinlan JJ, Sullivan E.
Anesth Analg. 2004;99(3):697-8, table of contents.
Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.
8062442
 MIXED_SAMPLE
Multiple coagulation defects and the Cohen syndrome.
Schlichtemeier TL, Tomlinson GE, Kamen BA, Waber LJ, Wilson GN.
Clin Genet. 1994;45(4):212-6.
The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors.
3174485
 FEMALE Child
[Cohen syndrome. Contribution to its clinical delineation].
Lapetina F, Piantoni G, Canino R, Teza F, Ferrarini D.
Pediatr Med Chir. 1988;10(2):217-21.
The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.