Hypoplastic pituitary gland was present in all three investigated children. Ichthyosiform dermatitis appeared in infancy in all surviving children. [onlinelibrary.wiley.com]

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES DBSNP FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN DBSNP ESP6500 FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT SCORES SIFT SCORE EXCLUDE VARIANTS WITHOUT SIFT SCORE POLYPHEN2 SCORE EXCLUDE [mendelmd.org]

Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. [bmcmedgenet.biomedcentral.com]

Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. [disorders.eyes.arizona.edu]

• Epilepsy

  Epilepsy and glaucoma have been reported only once in the 19 described SRD5A3 -congenital glycosylation defect patients, and corneal clouding not at all. [springerprofessional.de]

  Related symptoms: Seizures Global developmental delay Generalized hypotonia Microcephaly Cryptorchidism SOURCES: ORPHANET OMIM MENDELIAN More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME Medium match KLEEFSTRA SYNDROME [mendelian.co]

  614185 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3) GABRB3 Epileptic encephalopathy, early infantile, 43, 617113 (3) {Epilepsy [mendel.medicina.ufmg.br]

  Auralcephalosyndactyly Albinism, minimal pigment type Spastic paraplegia 15 Adenosine monophosphate deaminase 1 deficiency Ring chromosome 1 Lhermitte-Duclos disease Limb-girdle muscular dystrophy type 2F Flynn Aird syndrome Benign familial neonatal epilepsy [checkrare.com]

• Feeding Difficulties

  Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. [mendelian.co]

  Additional associated manifestations include feeding difficulties, recurrent respiratory infections in childhood, and large size at birth. Autosomal recessive inheritance is presumed on the basis of recurrence in a sib pair. [link.springer.com]

  Feeding difficulties leading to failure to thrive are also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

• Cerebral Palsy

  Population genetics The common forms of cerebral palsy have an incidence of 1 i... [findzebra.com]

  palsy Short finger Precocious puberty Optic nerve hypoplasia Diabetes insipidus Absent septum pellucidum Hypopituitarism Panhypopituitarism Abnormality of the pinna Abnormal myelination Short philtrum Hypovolemia Decreased circulating cortisol level [mendelian.co]

  Palsy Syndrome Short Rib-Polydactyly Syndrome Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome Short Stature With Microcephaly And Distinctive Facies Short Syndrome Shprintzen-Goldberg [familydiagnosis.com]

• Hypersomnia

  Some persons with EDS, including those with hypersomnias like narcolepsy and idiopathic hypersomnia, are compelled to nap repeatedly during the day; fighting off increasingly strong urges to sleep during inappropriate times such as while driving, while [findzebra.com]

• Osteoporosis

  Bone densitometry was carried out in five patients aged 15 to 25 years and showed osteopenia in all of them and osteoporosis in two. Osteoporosis manifested as hip or tibial fracture in two patients. [ojrd.biomedcentral.com]

  Downturned corners of mouth Joint hypermobility Round face Phimosis Language impairment Bilateral ptosis Vertebral fusion Unilateral cryptorchidism Progressive encephalopathy Failure to thrive Primary adrenal insufficiency Delayed skeletal maturation Osteoporosis [mendelian.co]

  Orofaciodigital Syndrome I Orofaciodigital Syndrome Type 1 Orofaciodigital Syndrome V Osteogenesis Imperfecta, Type III Osteoglophonic Dysplasia Osteopathia Striata With Cranial Sclerosis Osteopetrosis, Autosomal Recessive 1 Osteopetrosis, Autosomal Recessive 8 Osteoporosis-Macrocephaly-Blindness-Joint [familydiagnosis.com]

  […] tibial campomelia, and oligosyndactyly syndrome Midphalangeal hair Mehes syndrome Charcot-Marie-Tooth disease Salla disease Brachydactyly type C Hypocalcemia, autosomal dominant Ehlers-Danlos syndrome, hypermobility type ALG12-CDG (CDG-Ig) Juvenile osteoporosis [checkrare.com]

• Muscle Hypotonia

  All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life. Several had a severe delay in early motor development. [academic.oup.com]

  Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced activity followed [ 12 ]. [bmcmedgenet.biomedcentral.com]

  Patient II-2 was examined by a pediatrician at age 18 months and was found to have normal muscle tone but increased, brisk reflexes and mild hyperkeratosis on the right leg. [jamanetwork.com]

Conclusion We confirm that CDG screening should be a part of the routine workup of adolescent/adult patients with sporadic or presumably autosomal recessive cerebellar ataxia, even in the absence of other suggestive signs. [ojrd.biomedcentral.com]

Biochemical workup included renal and liver function tests, glucose, insulin, C-peptide, and glucagon levels. [docksci.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling. [pubmed.ncbi.nlm.nih.gov]

Prognosis (please describe) The prognosis regarding quality of life is mainly determined by the nature and the degree of the brain and eye involvement. [nature.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. [findzebra.com]

Research output : Contribution to journal › Article Prevalence and prognosis of Alzheimer's disease at the mild cognitive impairment stage Vos, S. J. [kclpure.kcl.ac.uk]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

We excluded storage disorders such as mucopolysaccharidosis type IV, which can present from birth in the form of CCO, along with all other metabolic causes and storage disorders, as etiologically distinct. [molvis.org]

Prognosis depends on the underlying etiology, which is diverse and includes infections, perinatal events and genetic disorders. [mdpi.com]

A wide spectrum of disorders caused by diverse monogenic etiologies resembles DS. [docksci.com]

A clinical, genetic, and epidemiological study. Clin Genet 19: 233–256. PubMed Google Scholar Julius CE, Keeran M (1971) Netherton’s syndrome in a male. Arch Dermatol 104: 422–424. [link.springer.com]

Epidemiology PLMD is estimated to occur in approximately 4% of adults (aged 15–100),J Psychosom Res. 2002 Jul;53(1):547-54. It is more commonly reported in the elderly and those with the previous medical conditions stated earlier. [findzebra.com]

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation. Growth Hormone and IGF Research, 18 (2), 89-110. DOI: 10.1016/j.ghir.2007.11.004. Publication link: 7aef42d3-bc44-4fb5-bc31-fef601ada656 Yesudian, P. D., Berry, J. [research.bmh.manchester.ac.uk]

Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013;15:78–89. Google Scholar 12. Berger S, Bosmia AN. [degruyter.com]

In the present article, we review emerging preclinical and clinical evidence related to these effects, and discuss some of the potential mechanisms underlying the role of S5αR in the pathophysiology of mental disorders. [ingentaconnect.com]

Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]

We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype–phenotype issues playing a role in the pathophysiology of DS. [docksci.com]

“It’s important to know the type of genetics disease in the population so that you can prevent them. And the way we prevent it is by identifying the gene. [adwonline.ae]

Three and a half years later, the investigation case files are well known to many - to those who took the time to read them; and so are the diligences that a hasty archival prevented the Judiciary Police of concluding. [joana-morais.blogspot.com]

Two of these agents, finasteride and dutasteride, have received official approval for the treatment of benign prostatic hyperplasia and are being tested for prevention of prostate cancer. [ingentaconnect.com]

Noting that the fracture sites coincided with the previously attempted IV placement sites, a jugular Hickman catheter was placed to prevent such reoccurrences. [cags.org.ae]