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Campomelic dysplasia with autosomal sex reversal

MedGen UID:
334163
Concept ID:
C1842462
Disease or Syndrome
Synonym: Campomelic Dysplasia with Autosomal Sex Reversal
SNOMED CT: Camptomelic dysplasia (74928006); Campomelic dysplasia (74928006); Campomelic dysplasia with autosomal sex reversal (74928006)
 
OMIM®: 114290; 608160

Definition

A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. [from SNOMEDCT_US]

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PubMed

Hossain N, Igawa T, Suzuki M, Tazawa I, Nakao Y, Hayashi T, Suzuki N, Ogino H
Dev Growth Differ 2023 Oct;65(8):481-497. Epub 2023 Aug 17 doi: 10.1111/dgd.12884. PMID: 37505799

Recent clinical studies

Etiology

Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC
J Formos Med Assoc 2006 Dec;105(12):1013-6. doi: 10.1016/S0929-6646(09)60286-2. PMID: 17185244

Diagnosis

Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091

Clinical prediction guides

Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091
Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC
J Formos Med Assoc 2006 Dec;105(12):1013-6. doi: 10.1016/S0929-6646(09)60286-2. PMID: 17185244

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