Oro-facio-digital syndrome type 13

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Oro-facial-digital syndrome type 13 or ( OFD XIII ) is a very rare congenital disease with a combination of heart disease , neuropsychiatric changes in addition to the typical changes of Oro-facial-digital syndrome .

Synonym : Degner syndrome

The first description comes from 1999 by the Göttingen psychiatrist D. Degner and colleagues.

Spread and causes

The frequency is given as less than 1 in 1,000,000, the cause and possible inheritance are not yet known.

Clinical manifestations

Clinical criteria are:

• Manifestation as a newborn or in childhood
• Heart defects such as dysplasia of the mitral and tricuspid valve
• Epilepsy and / or depression
• Hamartomas of the tongue , cleft lip
• Brachy, clino- and syndactyly of the hands and feet

Leukoaraiosis (white spots around the brain ventricles in magnetic resonance imaging ) can also occur.

Differential diagnosis

Other forms of orofacio-digital syndrome must be distinguished.

literature

• B. Franco, Ch. Thauvin-Robinet: Update on oral-facial-digital syndromes (OFDS). In: Cilia. Vol. 5, p. 12, 2016, doi: 10.1186 / s13630-016-0034-4

Individual evidence

1. ↑ ^{a b c} Oral-facial-digital syndrome type 13. In: Orphanet (database for rare diseases).
2. ↑ D. Degner, S. Bleich, A. Riegel, E. Rüther: Oro-facio-digital syndrome - a new form variant? Psychiatric, neurological and neuroradiological findings In: Advances in neurology-psychiatry. Vol. 67, No. 12, December 1999, pp. 525-528, doi: 10.1055 / s-2007-995229 , PMID 10683749 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !

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