FRMD4A

Corpus Callosum Agenesis with Facial Anomalies and Cerebellar Ataxia

Clinical Characteristics

Ocular Features:

The thick, bushy eyebrows and long eyelashes are part of the generalized hirsutism. The eyelids appear puffy. Strabismus of unknown type has been reported.

Systemic Features:

Infants are hypertonic at birth but this seems to be less evident as they grow. Slow physical growth and psychomotor delay are common. The skull in newborns is small. The ears are low-set, protruding, and posteriorly rotated. The nostrils are anteverted and the lower lip protrudes. There are severe cognitive defects which has been called mental retardation. Speech is poor or may never develop. Cerebellar ataxia and uncoordinated hand movements are features. Brain imaging reveals cerebellar hypoplasia and some degree of corpus callosum agenesis including absence.

Genetics

Homozygous mutations in the FRMD4A gene (10p13) have been found to segregate with this disorder in a large consanguineous Bedouin kindred.

Pedigree:

Autosomal recessive

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS. A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. Eur J Hum Genet. 2015 Dec;23(12):1729-34.

PubMed ID:

25388005

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