Autosomal recessive brachyolmia

MedGen UID:: 1675807
•Concept ID:: C4760908
•: Disease or Syndrome

Synonyms:	autosomal recessive brachyolmia; Brachyolmia Hobaek/Toledo type; brachyolmia, autosomal recessive; Brachyolmia, Hobaek/Toledo type; brachyolmia, Hobaek/Toledo type
SNOMED CT:	Autosomal recessive brachyolmia (783789002); Brachyolmia Hobaek/Toledo type (783789002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018662
Orphanet:	ORPHA448242

Definition

Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3''-phosphoadenosine 5''-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal recessive brachyolmia

Brachyolmia
- Autosomal recessive brachyolmia

Recent clinical studies

Etiology

Autosomal recessive brachyolmia: early radiological findings.

Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G
Skeletal Radiol 2016 Nov;45(11):1557-60. Epub 2016 Aug 21 doi: 10.1007/s00256-016-2458-8. PMID: 27544198

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
J Med Genet 2012 Aug;49(8):533-8. Epub 2012 Jul 11 doi: 10.1136/jmedgenet-2012-101039. PMID: 22791835

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Diagnosis

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P
Genes (Basel) 2021 Sep 12;12(9) doi: 10.3390/genes12091406. PMID: 34573388 Free PMC Article

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S
Am J Med Genet A 2019 Sep;179(9):1884-1894. Epub 2019 Jul 16 doi: 10.1002/ajmg.a.61282. PMID: 31313512

Autosomal recessive brachyolmia: early radiological findings.

Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G
Skeletal Radiol 2016 Nov;45(11):1557-60. Epub 2016 Aug 21 doi: 10.1007/s00256-016-2458-8. PMID: 27544198

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Clinical prediction guides

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Autosomal recessive brachyolmia

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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