Tessier number 7 facial cleft


Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


Total: 3

                       


(per page)
PMID (PMCID)
29959045
 MIXED_SAMPLE Child
Is MED13L-related intellectual disability a recognizable syndrome?
Torring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibaek M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshoj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
Eur J Med Genet. 2019;62(2):129-136.
Phenotypically, they all had intellectual disability, speech and motor delay, and features of the mouth (open mouth appearance, macroglossia, and/or macrostomia).
29959045
 MIXED_SAMPLE Child
Is MED13L-related intellectual disability a recognizable syndrome?
Torring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibaek M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshoj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
Eur J Med Genet. 2019;62(2):129-136.
Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.
21910233
 FEMALE Infant
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC.
Am J Med Genet A. 2011;155A(10):2465-8.
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.