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]

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

• 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]

• 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]

  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]

• Regurgitation

  She had an Ostium secundum atrial septal defect with a mild tricuspid regurgitation and no pulmonary arterial hypertension. She had no pancytopenia or thrombocytopenia. [annalsofian.org]

• 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]

• Small Eyes

  He had a typical face with low hairline, small eyes, a prominent nasal bridge and prominent ears. Microcephaly (head circumference = 29 cm) was noticed at birth. The calvarium was of normal shape and fontanels were closed in the normal way. [ijps.org]

• 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]

• 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]

• Distractibility

  Currently, the patient is undergoing bone distraction to achieve the desired head shape with regular follow-up to monitor growth and development. [neo-med.org]

• Short Nose

  nose Decreased length of nose Shortened nose [ more ] 0003196 5%-29% of people have these symptoms Abnormal cardiac septum morphology 0001671 Abnormal localization of kidney Abnormal localisation of kidneys 0100542 Anal atresia Absent anus 0002023 Broad [rarediseases.info.nih.gov]

  People with BGS have distinct facial features, including a protruding forehead, widely-spaced eyes, short nose, and small mouth. The palate, or roof of the mouth, may have a high arched appearance. [rarediseases.org]

  These findings have to be compared with the newborn infant (patient 1) who has marked brachycephaly and facial dysmorphia that includes a small mouth, short nose, short palpebral fissures with telecanthus, and a bulging forehead where a W‐shaped upper [ncbi.nlm.nih.gov]

  (B) Face of patient 1 at 12 years showing arched eyebrows, telecanthus, epicanthal folds, hemangioma on the frontal region, small and flared nose, short philtrum, and a wide mouth with downturned corners. [frontiersin.org]

• Focal Seizure

  While administering sodium valproate, she had a focal seizure with a fall due to the accompanying loss of consciousness. [annalsofian.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]

• 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 or Management of the Condition Treatment is available in the form of surgery which seeks relieve pressure on the brain, allowing for proper brain growth within the skull, and to improve the quality of life of the child through the enhancement [wiki.ggc.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]

Cohen Jr., “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]

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]