Orofaciodigital Syndrome I

Alternative Names

  • OFD1
  • Oral-Facial-Digital Syndrome, Type I
  • OFDS I
  • Papillon-League-Psaume Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

311200

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xp22.2

Description

Orofaciodigital syndrome type I (OFD1) is a developmental condition that belongs to a heterogeneous group of Oral-Facial-Digital syndromes. OFD1 is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. Clinically, OFD1 is seen only in females since it is lethal in males. Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. Digital anomalies include brachydactyly, syndactyly, clinodactyly, camptodactyly, polydactyly, and hypoplastic thumbs. Less frequently expressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Some studies have shown that the central nervous system is involved in 50 % of the cases.

Sometimes the diagnosis of OFDI can be difficult because there is an overlap with other types of oral-facial-digital syndromes. However, the X-linked dominant pattern of inheritance and the polycystic kidney disease are typical of OFD1 and differentiate it from the other types of OFD syndromes.

OFD1 syndrome is caused by heterozygous mutation in the OFD1 gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
311200.1Saudi ArabiaFemale Cleft palate; Lobulated tongue; Seizures...NM_003611.3:c.1193_1196delHemizygousX-linked, DominantMaddirevula et al. 2018 Patient's parents ar...
311200.2United Arab EmiratesFemaleNoNo Partial agenesis of the corpus callosum;...NM_003611.3:c.2757+1delHemizygousX-linked, DominantBen-Salem et al. 2015 Patient's parents ar...

Other Reports

Saudi Arabia

Al-Qattan and Hassanian (1997) described the case of a Saudi Arabian girl, less than two years old, with clinical features consistent with both orofaciodigital syndrome type I (Papillon Leage-Psaume syndrome) and type VI (Varadi-Papp syndrome). The girl was born to healthy non-related parents with five healthy children. The palmar/nail abnormality in the patient was associated with loss of active flexion of the interphalangeal joints. Although the patient had clinical features consistent of both OFD I (milia of face and ears, brittle and dry scalp with alopecia) and OFD VI (cerebellar anomalies) she did not show the presence of a forked metacarpal, which is characteristic of OFD VI. It is because of a careful review of the radiological findings in the hands that the final diagnosis was placed as a new mutation of orofaciodigital syndrome type I. Two years later, Al-Qattan (1998) presented a rare case of 10-year-old Saudi girl with oral-facial-digital syndrome type I. The parents were not related and were healthy, as were their other two sons and two daughters. The patient had two features that have not been previously described: cone-shaped epiphyses in the toes and trifurcation of the soft palate. No malformations of the cardiovascular, gastrointestinal or urinary systems were found. Chromosomal analysis revealed a normal female karyotype.

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