Baller-Gerold syndrome, abbreviated BGS, is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of the bones of the face, forearm and hand. Its symptoms overlap with the features of other genetic disorders, including Rothmund-Thomson syndrome and RAPADILINO syndrome. The prevalence is unknown because only a few cases have been reported, but it is estimated to be fewer than one in a million people. The syndrome is named for the researchers Baller and Gerold, who described the first three cases.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Baller-Gerold syndrome (Wikipedia)
Lead paragraph 1
premature fusion of the skull bones and malformations of facial, forearm and hand bones
Lead paragraph 1 [causative-agent-category]
is a rare genetic syndrome
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:1225 Baller-Gerold syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q75.0", "Source": "ICD-10"
3. MedlinePlus Genetics (National Library of Medicine): Baller-Gerold syndrome - MedlinePlus Genetics
MedlinePlus Genetics (National Library of Medicine)Causes
Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome.
Description and Inheritance
Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome.
View the Source 4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:1225Quote, ORPHA:1225
Point prevalence Class only <1 / 1 000 000
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