People with BGS may have stunted growth, short stature and misshapen kneecaps. [1] Poikiloderma may also be present in people with this syndrome, meaning that their skin may have regions of hyperpigmentation and hypopigmentation, or regions where the [mashpedia.com]

Clinical description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing, nasal hypoplasia, small mouth, ogival palate). [orpha.net]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

People with BGS may have stunted growth, short stature and misshapen kneecaps.[1] Poikiloderma may also be present in people with this syndrome, meaning that their skin may have regions of hyperpigmentation and hypopigmentation, or regions where the skin [en.wikipedia.org]

• Short Stature

  People with Baller-Gerold syndrome may have a number of other signs and symptoms, including slow growth from infancy, short stature, and malformed or missing kneecaps (patellae). [altmeyers.org]

  In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A>C). [ncbi.nlm.nih.gov]

  Abstract : We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. [hal.archives-ouvertes.fr]

  Stature Syndrome AR 99.99 19 of 19 CDC6 Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome AR 100 2 of 2 CDH11 Elsahy-Waters Syndrome, Branchioskeletogenital Syndrome AR 99.95 10 of 10 CDT1 Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome [igenomix.es]

  People with BGS may have stunted growth, short stature and misshapen kneecaps. [1] Poikiloderma may also be present in people with this syndrome, meaning that their skin may have regions of hyperpigmentation and hypopigmentation, or regions where the [mashpedia.com]

• Epilepsy

  In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders. [rareguru.com]

  This medication is used to treat epilepsy and certain psychiatric disorders. [ghr.nlm.nih.gov]

  […] with Ataxia Primary Autosomal Recessive Microcephaly Primary Ciliary Dyskinesia Primary Congenital Glaucoma Primary Familial Brain Calcification Progressive Myoclonus Epilepsy, Lafora Type Proopiomelanocortin Deficiency PROP1-Related Combined Pituitary [genetests.org]

  […] syndrome Rossbach, HC; Sutcliffe, MJ; Haag, MM; Grana, NH; Rossi, AR; Barbosa, JL Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsy [deepdyve.com]

• Failure to Thrive

  80%-99% of people have these symptoms Aplasia/Hypoplasia of the radius 0006501 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Brachyturricephaly High, prominent forehead 0000244 Failure to thrive in infancy [rarediseases.info.nih.gov]

  […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Frontal bossing 0002007 Hand oligodactyly Hand has less than 5 fingers 0001180 Large fontanelles Wide fontanelles 0000239 Proptosis Bulging eye Eyeballs bulging [rareophthalmologynews.com]

  In addition to phenotypic variability, additional features presented in BGS include failure to thrive, developmental delay, and systemic anomalies such as congenital heart disease (ventricular septal defect and patent ductus arteriosus), renal agenesis [neo-med.org]

  At an older age (patient 4 at 3 and 6 years), dysmorphia is less pronounced but failure to thrive is obvious. [ncbi.nlm.nih.gov]

  Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. [howlingpixel.com]

• High Arched Palate

  bifid uvula, high arched palate and a prominent mandible. [ijps.org]

  Physical examination on admission revealed a palpable ridge on the bilateral coronal sutures, a dysmorphic face, such as a prominent forehead, a high arched palate, and low set ears, a floating thumb on the right hand, and a malformed thumb with a tight [neo-med.org]

  At birth, the following anomalies were present:asymmetric brachycephalic skull, sagittal suture displaced to theleft, craniosynostosis of right coronal suture, right orbit displacedupwards, asymmetric face, high arched palate, bilateral agenesis ofthe [documents.tips]

  wide mouth with downturned corners and high-arched palate (Figure 1B). [frontiersin.org]

• Prognathism

  Head and neck: Craniosynostosis, steep forehead, oxycephaly, micrognathia, relative mandibular prognathism, and midline capillary hemangioma. Ears: Low-set malformed ears. Eyes: Hypertelorism. [whonamedit.com]

  Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous. [rrnursingschool.biz]

• Thumb Hypoplasia

  We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. [ncbi.nlm.nih.gov]

  Radial ray hypoplasia or absent thumbs occur in a minority of cases. RAPADILINO syndrome is characterized by radial ray defects. BGS is characterized by craniosynostosis in association with radial hypoplasia. [spandidos-publications.com]

  The absence or hypoplasia of thumbs is the most common deformity in BGS; it occurs in 95% of patients, followed by the absence or hypoplasia of radii in 77% of patients. [neo-med.org]

• Absent or Hypoplastic Thumbs

  In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. [ncbi.nlm.nih.gov]

  In BGS patients with absent or hypoplastic thumbs, pollicization of the index finger is an appropriate method to restore functional grasp; however, many patients with aplastic or hypoplastic thumbs can grasp objects without orthopedic surgery [15]. [neo-med.org]

• Low-Set Posteriorly Rotated Ears

  Low set posteriorly rotated ears (64%). Micrognathia (50%). Microstomia (32%). Limbs. Radial aplasia/hypoplasia (77%). Ulna, short and curved (68%). Missing carpals, metacarpals and phalanges and fused carpals. Thumbs, absent or hypoplastic (100%). [fetalultrasound.com]

  posteriorly rotated ears 0000368 Midface capillary hemangioma 0007452 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Optic atrophy 0000648 Patellar hypoplasia Small kneecap Underdeveloped kneecap [ more ] 0003065 [rarediseases.info.nih.gov]

  Low-set, posteriorly rotated ears MedGen UID: 387834 •Concept ID: C1857486 • Finding Ears that are low-set and posteriorly rotated. [ncbi.nlm.nih.gov]

• Hypertelorism

  Other characteristic facial features include hypertelorism, microstomia, and a saddle-shaped dysplastic nose. Furthermore, oligodactyly and malformed or absent thumbs. [altmeyers.org]

  Eyes: Hypertelorism. Nose: Prominent nasal bridge, long philtrum, and epicanthal folds. Mouth and oral structures: Cleft palate, bifid uvula, and highly arched palate. Hand and foot: Aplastic or hypoplastic thumbs. [whonamedit.com]

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

  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. [rarediseases.oscar.ncsu.edu]

We suggest that a basic immunologic and hematologic workup should be part of the standard of care of all patients affected with BGS or related syndromes. [ncbi.nlm.nih.gov]

Management and treatment Treatment consists of surgery of the bilateral craniosynostosis in the first 6 months of life and, if necessary, pollicization of the index finger for thumb reconstruction. [orpha.net]

Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. [diseaseinfosearch.org]

Only 12 cases have been reported previously in the literature; none of the reports describe surgical treatment for the radial aplasia. [ncbi.nlm.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Further studies on effective genetic treatments such as CRISPR may be beneficial as well. [boisestate.edu]

Prognosis The prognosis for patients with mutations of the RECQL4 gene, homozygous or heterozygous, is related to an increased risk of cancer. The documents contained in this web site are presented for information purposes only. [orpha.net]

Diagnosis and Prognosis: The considerable variability in severity and nature of the abnormalities makes the prognosis difficult to define. Some infants have died young but other individuals certainly live considerably longer. [disorders.eyes.arizona.edu]

A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the [ncbi.nlm.nih.gov]

REVIEW OF THE LITERATURE: Only 32 patients have been reported in the world literature and these cases support the emerging view that BGS is not a distinct syndrome, but should instead be considered to be an heterogeneous phenotype with variable etiology [ncbi.nlm.nih.gov]

Etiology Baller-Gerold syndrome is secondary to mutations of the RECQL4 gene (8q24.3). RECQL4 is a member of the RecQ helicase gene family which cause other diseases predisposing to cancer. [orpha.net]

In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and [books.google.com]

Summary Epidemiology Around 30 cases have been reported but the prevalence of the syndrome is unknown. [orpha.net]

Epidemiologie – Epidemiology is the study and analysis of the patterns, causes, and effects of health and disease conditions in defined populations. [wikivisually.com]

Epidemiology Worldwide, less than 1 per 100,000 people are diagnosed with BGS. Less than 40 cases have been disclosed in medical literature. [boisestate.edu]

Aoki M, Fukao T, Kaneko H, Mizunaga S, Mitsuyama J, Sawamura H, Seishima M, Kondo N Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 13(4) 224-229 2007年8月 [査読有り] [The pathophysiology of food allergy]. [researchmap.jp]

ライソゾーム病学術講演会in 北陸（２０１２，１０，１４，金沢） 56）Kuroda R, Maeba H, (Sato K : Pathophysiological and Experimental Pathology, Kanazawa Medical University), (Naka K : Division of Molecular Genetics, Cancer Research Insititute, Kanazawa University), Araki R, Mase S, [ped.w3.kanazawa-u.ac.jp]

A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [ghr.nlm.nih.gov]

Prevention Preventive measures for genetic and mutation-related diseases such as Baller-Gerold syndrome are only available in moderation. [gradphysics.com]

RECQL4 gene encodes for the RECQL4 protein in which shortage of the protein is known to prevent DNA replication and repair. Gene mutation inherited in an autosomal recessive pattern (NIH 2020) RECGL 4 Gene Mutation Figure 2. [boisestate.edu]