A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
We report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition.
Spiegel
Ronen
R
Department of Pediatrics A, Genetic Institute, Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.il
Horovitz
Yoseph
Y
Peters
Hartmut
H
Erdogan
Fikret
F
Chervinsky
Ilana
I
Shalev
Stavit A
SA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005835:Genitalia / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D055815:Young Adult