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]

Here we present a 7-year-old boy with a polymalformative syndrome associated with poikiloderma. [ejpd.com]

Underdevelopment (hypoplasia) or absence (aplasia) of the bone on the thumb side of the forearms (radii) may also be present. [rarediseases.org]

• Short Stature

  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]

  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]

  Short stature is common and growth is slow. Some patients have mental deficits as well. Internal organs are usually normal but the anus and genitalia are often malformed. [disorders.eyes.arizona.edu]

  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]

• 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]

  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]

  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]

  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]

  Ling TT, Sorrentino S: Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A 2016;170A:217–219. [karger.com]

• 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]

• Joint Stiffness

  She had bilateral hypoplastic radius, oligodactyly, and knee joints stiffness. Bilateral glaucoma and hypotonia were also noted. Neurodevelopmental delay and hypothyroidism were recorded. [frontiersin.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 (HP:0000369) and posteriorly rotated (HP:0000358). [ncbi.nlm.nih.gov]

• Generalized Seizure

  Generalized seizures, responsive to levetiracetam, occurred when she was 8-year old; her height was at −8.5 SD (80 cm), weight at −4.8 SD (10 kg), and OFC at −7 SD (43 cm). [frontiersin.org]

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]

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

Treatment Treatment Options: No treatment is available. References Ramos Fuentes FJ, Nicholson L, Scott CI Jr. Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. [disorders.eyes.arizona.edu]

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. [rareguru.com]

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]

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]

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]

An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects 1975; 11: 137-89 6 Cohen Jr MM, Toriello HV. Is there a Baller-Gerold syndrome?. Am J Med Genet 1996; 61: 63-4 7 Anoop P, Sasidharan CK. Baller-Gerold syndrome. [thieme-connect.com]

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

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]

Epidemiology The exact number of persons who have BGS is unknown, but it is thought to be less than one in a million. So far, less than 40 cases have been described in the medical literature. [news-medical.net]

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]

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]

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