Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly, syndrome)
Extremely rare. Autosomal dominant transmission of a mutation of the CDC142 gene (1p36.7).
Complex congenital developmental anomaly that combines:
- mental retardation of variable severity: poor or absent speech, hypotonia
- facial dysmorphism: bulging forehead, midface hypoplasia, short philtrum, hypertelorism, low-set ears, webbed neck, ptosis, synophris, wide mouth, wide nose base
- macrothrombocytopenia
- lymphedema (sometimes chylous ascites)
- cardiac malformations: ductus arteriosus, ASD, VSD, abnormal pulmonary venous return
- brain malformations: microcephaly, ventriculomegaly, abnormalities of the corpus callosum, Dandy-Walker, cortical or cerebellar atrophy
- urogenital malformations: hypospadias, hydronephrosis, unilateral renal agenesis
- skeletal abnormalities: camptodactyly, clinodactyly, thumb abnormalities
- and sometimes: deafness, retinal dysplasia (strabismus or nystagmus)
Anesthetic implications:
echocardiography, total blood count, hemostasis, risk of difficult intubation
References :
- Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K.
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
Am J Med Genet 2016; 170A: 852-5.
Updated: February 2022