Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acrocallosal syndrome

Acrocallosal syndrome is an autosomal recessive disorder caused by mutations of the KIF7 gene.

Systematic

Ciliopathy
Acrocallosal syndrome
KIF7
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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2.

Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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3.

Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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4.

None (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

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5.

Brueton LA et al. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders.

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6.

Cataltepe S et al. (1992) A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

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7.

Pfeiffer RA et al. (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

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8.

Gelman-Kohan Z et al. (1991) Further delineation of the acrocallosal syndrome.

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9.

Lungarotti MS et al. (1991) Acrocallosal syndrome: a new case.

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10.

Fryns JP et al. (1991) The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.

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11.

Turolla L et al. (1990) How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

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12.

Yüksel M et al. (1990) The acrocallosal syndrome in a Turkish boy.

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13.

Hendriks HJ et al. (1990) Acrocallosal syndrome.

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14.

Temtamy SA et al. (1989) Hypogenitalism in the acrocallosal syndrome.

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15.

Casamassima AC et al. (1989) Acrocallosal syndrome: additional manifestations.

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16.

Salgado LJ et al. (1989) Acrocallosal syndrome in a girl born to consanguineous parents.

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17.

Moeschler JB et al. (1989) Acrocallosal syndrome: new findings.

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18.

Philip N et al. (1988) The acrocallosal syndrome.

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19.

None (1988) The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

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20.

Schinzel A et al. (1986) The acrocallosal syndrome in sisters.

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21.

Legius E et al. (1985) Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

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22.

Nelson MM et al. (1982) The acrocallosal syndrome.

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23.

Schinzel A et al. (1980) Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

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24.

Christianson AL et al. (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents.

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25.

Kedar I et al. (1996) Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.

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26.

Koenig R et al. (2002) Spectrum of the acrocallosal syndrome.

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27.

Elson E et al. (2002) De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

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28.

None (2008) The Greig cephalopolysyndactyly syndrome.

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29.

Aykut A et al. (2008) An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

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30.

Orphanet article

Orphanet ID 36 [^]
31.

OMIM.ORG article

Omim 200990 [^]
32.

Wikipedia article

Wikipedia EN (Acrocallosal_syndrome) [^]
Update: April 29, 2019