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Baller-Gerold syndrome(BGS)

MedGen UID:
120532
Concept ID:
C0265308
Congenital Abnormality; Disease or Syndrome
Synonyms: BGS; Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects; RECQL4-Related Disorders
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Baller-Gerold syndrome (77608001); Craniosynostosis-radial aplasia syndrome (77608001)
 
Gene (location): RECQL4 (8q24.3)
OMIM®: 218600

Disease characteristics

Excerpted from the GeneReview: Baller-Gerold Syndrome
Baller-Gerold syndrome (BGS) is characterized by coronal craniosynostosis, manifest as abnormal shape of the skull (brachycephaly) with ocular proptosis and bulging forehead; radial ray defect, manifest as oligodactyly (reduction in number of digits), aplasia or hypoplasia of the thumb, and/or aplasia or hypoplasia of the radius; growth retardation and poikiloderma. Findings in individuals with BGS overlap with those of Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome, also caused by pathogenic variants in RECQL4. RTS is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows/lashes; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. RAPADILINO syndrome is an acronym for radial ray defect; patellae hypoplasia or aplasia and cleft or highly arched palate; diarrhea and dislocated joints; little size and limb malformation; nose slender and normal intelligence. [from GeneReviews]
Authors:
Lionel Van Maldergem   view full author information

Additional description

From GHR
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.  https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome

Clinical features

Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Anomalous splenoportal venous system
MedGen UID:
446645
Concept ID:
CN004608
Finding
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Patellar hypoplasia
MedGen UID:
327021
Concept ID:
C1840068
Finding
Underdevelopment of the patella.
Hypoplasia of the radius
MedGen UID:
374382
Concept ID:
C1840087
Finding
Underdevelopment of the radius.
Limited elbow movement
MedGen UID:
337930
Concept ID:
C1849955
Finding
Hypoplasia of the ulna
MedGen UID:
350599
Concept ID:
C1862132
Finding
Underdevelopment of the ulna.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Patellar hypoplasia
MedGen UID:
327021
Concept ID:
C1840068
Finding
Underdevelopment of the patella.
Hypoplasia of the radius
MedGen UID:
374382
Concept ID:
C1840087
Finding
Underdevelopment of the radius.
Hypoplasia of the ulna
MedGen UID:
350599
Concept ID:
C1862132
Finding
Underdevelopment of the ulna.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Brachyturricephaly
MedGen UID:
387833
Concept ID:
C1857484
Finding
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Recent clinical studies

Etiology

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. PMID: 11754069
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Diagnosis

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Santos de Oliveira R, Lajeunie E, Arnaud E, Renier D
Childs Nerv Syst 2006 Jan;22(1):90-4. Epub 2005 Mar 23 doi: 10.1007/s00381-004-1089-x. PMID: 15789214
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Therapy

Artlich A, Möller J, Tschakaloff A, Schwinger E, Kruse K, Gortner L
Eur J Pediatr 1994 Jul;153(7):488-91. PMID: 7957364

Prognosis

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. PMID: 11754069
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Clinical prediction guides

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-52. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657Free PMC Article
Temtamy SA, Aglan MS, Nemat A, Eid M
Genet Couns 2003;14(3):299-312. PMID: 14577674
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. PMID: 1583650Free PMC Article

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