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GTR Home > Conditions/Phenotypes > Orofaciodigital syndrome I

Orofaciodigital syndrome I

Synonyms
OFD syndrome 1; OFDS 1; OFDS I; Oral-Facial-Digital Syndrome Type I; Oral-facial-digital syndrome type 1; Orofaciodigital syndrome 1; Papillon-Leage and Psaume Syndrome; Papillon-League-Psaume syndrome (formerly)
Modes of inheritance
X-linked dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Oral-Facial-Digital Syndrome Type I
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Brunella Franco
Ange-Line Bruel
Christel Thauvin-Robinet
view full author information

Available tests

111 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (111 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 71-7A, CXorf5, JBTS10, RP23, SGBS2, OFD1
    Summary: OFD1 centriole and centriolar satellite protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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