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Article

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

The Journal of the Association of Physicians of India - 1 Jun 2026

Gogineni Sai Namratha, Asirvatham Adlyne Reena, Ranjan Asha, Mahadevan Shriraam

Abstract excerpt

Raine syndrome (OMIM # 259775) is a rare disorder characterized by osteosclerotic bone dysplasia and autosomal recessive inheritance due to mutations in FAM20C. Classic clinical features include generalized osteosclerosis, dysmorphic facies, and thoracic hypoplasia. FGF23-mediated hypophosphatemic rickets/osteomalacia, besides osteosclerosis, occurs due to mutations in the FAM20C gene that encodes a...

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Source

Identifiers

PMID: 42543966
DOI: 10.59556/japi.74.1354

Genes

FAM20C
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.PMID 42543966Read ↗

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.Semantic proximity Read ↗

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.Semantic proximity Read ↗

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.Semantic proximity Read ↗

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.Semantic proximity Read ↗

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.Semantic proximity Read ↗

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.Semantic proximity Read ↗

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Semantic proximity Read ↗

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.Semantic proximity Read ↗

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.Semantic proximity Read ↗

Two Novel FAM20C Variants in A Family with Raine Syndrome.Semantic proximity Read ↗

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