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]

We present a new case of the Baller-Gerold syndrome (BGS) in an infant with prenatally apparent severe hydrocephalus, growth retardation, and cardiac and limb abnormalities detected by ultrasound at 26 weeks of gestational age. [ncbi.nlm.nih.gov]

• Short Stature

  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]

  Definition An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. [uniprot.org]

• Sepsis

  She died at 2 months of age because of overwhelming sepsis that appeared to be due to an underlying humoral immunodeficiency. [ncbi.nlm.nih.gov]

• Nail Abnormality

  RTS is characterised by poikiloderma congenita (usually first manifested between 4 and 6 months of age), alopecia, skeletal defects, dystrophic nails, abnormal teeth, cataracts, and small stature. Photosensitivity is highly variable. [ncbi.nlm.nih.gov]

• 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]

  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]

  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]

• Abnormal Teeth

  RTS is characterised by poikiloderma congenita (usually first manifested between 4 and 6 months of age), alopecia, skeletal defects, dystrophic nails, abnormal teeth, cataracts, and small stature. Photosensitivity is highly variable. [ncbi.nlm.nih.gov]

• Blue Sclera

  The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. [ncbi.nlm.nih.gov]

  Some individuals have nystagmus while strabismus, blue sclerae, and ectropion have also been reported. Systemic Features: The cardinal features of this syndrome are craniosynostosis and radial defects. [disorders.eyes.arizona.edu]

• Thin Skin

  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. [ghr.nlm.nih.gov]

• Cutaneous Manifestation

  In these two subsets, cutaneous manifestations are found only in Fanconi anaemia patients in the form of pigmentary changes. [ncbi.nlm.nih.gov]

• 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]

• Metacarpal Hypoplasia

  Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. [ncbi.nlm.nih.gov]

• Joint Limitation

  limitation, rib fusion, flat vertebrae and absent middle phalanx). [ijps.org]

• Low-Set Posteriorly Rotated Ears

  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 (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]

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]

• Pancreatic Islet-Cell Hypertrophy

  Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted. [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]

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]

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]

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]

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]

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]

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]

“An etiologic and nosologic overview of craniosynostosis syndromes,” Birth Defects: Original Article Series, vol. 11, no. 2, pp. 137–189, 1975. View at: Google Scholar M. E. S. Lewis, P. L. Rosenbaum, and B. A. [hindawi.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]

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]

Primary skin cancer is the most common cancer afflicting mankind and is rising in inci dence, despite the fact that it is often preventable. [books.google.com]

Protein coding - C9JWX1 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]