Oro-facial-digital syndrome type I: a case report with novel features

Syed, Shaheen; Sawant, Poonam Ramnath; Spadigam, Anita; Dhupar, Anita

doi:10.4322/acr.2021.315

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…OFDS predominantly manifests within populations characterized by low socioeconomic status, where consanguineous marriages are prevalent. This prevalence underscores the persistence of recessive and remote genetic defects within society, contributing to the perpetuation of defective genes in the community [1]. In India, a society that places considerable importance on understanding individuals' castes before marriage, genetic defects have the potential to span across numerous generations.…”

Section: Discussionmentioning

confidence: 99%

“…Oro-facial-digital syndrome (OFDS) type 2, commonly known as Mohr syndrome, is a rare genetic disorder affecting the normal development of facial and oral anatomy, accompanied by post-axial polydactyly [1]. Typically inherited through autosomal recessive and X-linked dominant patterns, the presented case reveals an unusual autosomal dominant mode of inheritance, contributing to its rarity [2].…”

Section: Introductionmentioning

confidence: 99%

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Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy

Tiwari,

Vagha,

Agarwal

et al. 2024

Cureus

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Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors. The observed features include post-axial polysyndactyly in both upper and lower limbs, with the male child exhibiting additional manifestations of strabismus and knee joint defects. Symptomatic management is pursued due to the absence of complications, with surgical interventions and subsequent cosmetic repairs planned for all three children. Post-surgical physiotherapy is scheduled as part of their comprehensive treatment plan. The prognosis for this disorder is generally favorable, with a complete recovery anticipated and no complications expected.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy

Tiwari,

Vagha,

Agarwal

et al. 2024

Cureus

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“…This syndrome is associated with mutations OFDI gene (CXORF5) [12] . This syndrome is characterized by numerous hyperplastic fibrous bands traversing the gingivolabial and gingivobuccal folds.…”

Section: G Oro-facial-digital Syndrome Typementioning

confidence: 99%

“…Also gingivitis or gingival recession is noted in these patients. Other findings include thickened alveolar ridges and abnormal dentition, cleft palate, lingual hemartomas and ankyloglossia [12] Patients might also show learning disabilities and polycystic kidneys.…”

Section: G Oro-facial-digital Syndrome Typementioning

confidence: 99%

Syndromes of head and neck region associated with gingival findings

Dhume,

Dias

2023

Int. J. Appl. Dent. Sci.

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The part of the oral mucosa that covers the alveolar processes of the jaws and also surrounds the neck of the teeth is known as gingiva. The word syndrome is derived from the Greek syn (together) and dromos (running) and refers to a 'running together' or concurrence of symptoms. Even after taking into account local inflammatory conditions and drug use, occasional instances with a syndromic origin have been recorded. Present review tries to combine the relevant features of syndromes associated with gingival findings into a systemic review.

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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Bruel

Ganga

Nosková

et al. 2023

Human Molecular Genetics

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Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over twenty genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families. Affected individuals presented a novel form of OFDS (OFDS-RAB34) accompanied by cardiac, cerebral, skeletal, and anorectal defects. RAB34 encodes a member of the Rab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Unlike many genes required for cilium assembly, RAB34 acts selectively in cell types that use the intracellular ciliogenesis pathway, in which nascent cilia begin to form in the cytoplasm. We find that the protein products of these pathogenic variants, which are clustered near the RAB34 C-terminus, exhibit a strong loss of function. Although some variants retain the ability to be recruited to the mother centriole, cells expressing mutant RAB34 exhibit a significant defect in cilium assembly. While many Rab proteins have been previously linked to ciliogenesis, our studies establish RAB34 as the first small GTPase involved in OFDS and reveal the distinct clinical manifestations caused by impairment of intracellular ciliogenesis.

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Oro-facial-digital syndrome type I: a case report with novel features

Cited by 5 publications

References 12 publications

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy

Syndromes of head and neck region associated with gingival findings

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

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