Unlike patients with DKC who present later in life, most cases of HHS present in the first years of life. [lymphosign.com]

We describe 14 years of follow-up of an individual with Hoyeraal-Hreidarsson syndrome who initially presented as an infant with intrauterine growth retardation, microcephaly, and central nervous system calcifications. [ncbi.nlm.nih.gov]

Clinical description The disease generally presents in early childhood and primarily affects males. Growth retardation is usually of prenatal onset. [orpha.net]

Proliferative retinopathy is variably present in DC depending on subtype and has been reported in other telomeropathies. [healio.com]

• Aspiration

  A BM aspirate at this time revealed a hypocellular marrow consistent with trilineage BM failure. [nature.com]

  The parents were counseled accordingly and bone marrow aspiration was recommended. They refused further investigation. [researchgate.net]

  Mauriac Syndrome May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration [rgd.mcw.edu]

• Progressive Dysphagia

  Clinically, he demonstrated a developmental delay and progressive dysphagia. [thieme-connect.com]

• Intestinal Atresia

  Mutations in tetratricopeptide repeat domain 7A (TTC7A) are associated with combined immunodeficiency with dendriform lung ossification but no intestinal atresia. LymphoSign J.1(1):10–26. [lymphosign.com]

• Excessive Wrinkled Skin

  wrinkled skin Generalized hyperpigmentation Generalized hypopigmentation of hair Hypertonia Nail dystrophy Oral leukoplakia Premature graying of hair Sparse scalp hair Ventriculomegaly Occasionally present symptoms in 5-29% of the cases: Abnormality [dovemed.com]

• Tremulousness

  A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months. [ncbi.nlm.nih.gov]

  CASE PRESENTATION: A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months. [uniprot.org]

  CASE PRESENTATION A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months. [wwww.unboundmedicine.com]

• Forgetful

  The Hoyeraal-Hreidarsson syndrome: Don't forget the associated immunodeficiency. [link.springer.com]

  The Hoyeraal-Hreidarsson syndrome: don’t forget the associated immunodeficiency. Eur J Pediatr.154(12):998. [lymphosign.com]

• Broad-Based Gait

  Ataxia also manifested as a broad-based gait. His clinical course was complicated by severe infections and ICU admissions. [lymphosign.com]

Her vasculitic workups including antinuclear antibody profile and rheumatoid arthritis were all negative. HIV, hepatitis B, and hepatitis C serologies were negative. Serum levels of folate and Vitamin B12 were normal. [journals.lww.com]

Karyotype was normal and an extensive genetics workup was also negative. Although, the classic mucocutaneous signs were not present, the diagnosis of HH was made at age 4 when his telomeres were found to be extremely short in all cell lines. [healio.com]

Karyotype was normal and an extensive genetics workup was also negative. [docksci.com]

Once again, an infectious workup, including stool adenovirus, cytomegalovirus, norovirus, enterovirus, cryptosporidium, giardia, clostridium difficile, Escherichia coli and other bacterial stool pathogens were negative. [pghn.org]

Management and treatment The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections is required. [orpha.net]

TREATMENT There is no cure for this disorder. Treatment is symptom specific and supportive. Aplastic anemia and immunodeficiency are treated with bone marrow/stem cell transplantation. [secure.ssa.gov]

The complications of Hoyeraal-Hreidarsson Syndrome may include: Failure to thrive Severe neurological abnormalities Development of cancer, in some cases Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis - Hoyeraal-Hreidarsson syndrome The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. Treatment - Hoyeraal-Hreidarsson syndrome Not supplied. [checkorphan.org]

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. Last updated: 2/1/2013 [rarediseases.info.nih.gov]

Etiology HSS is caused by mutations in the DKC1 gene (Xq28), encoding the nucleolar protein dyskerin which interacts with the human telomerase RNA complex. [orpha.net]

Summary Epidemiology Prevalence and incidence are unknown. More than 12 patients have been reported to date but the syndrome may be underdiagnosed due to high mortality rates. [orpha.net]

Epidemiology Prevalence and incidence are unknown. More than 12 patients have been reported to date but the syndrome may be underdiagnosed due to high mortality rates. [rarediseases.info.nih.gov]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.es]

This review summarizes the pathophysiology underlying TBDs, associated clinical features, management recommendations and therapeutic options. [tandfonline.com]

This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome." Nature Genetics, vol. 44, no. 3, 2012, p. 238+. [go.gale.com]

Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. [1, 2] Pathophysiology To date, there are 14 genes that have been identified with DKC ( ACD, DCK1, TERC, TERT, NOP10, NHP2, TINF2, [emedicine.medscape.com]

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. [ncbi.nlm.nih.gov]

Hoyeraal Hreidarsson Syndrome may not be preventable, since it is a genetic disorder Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding [dovemed.com]

Prevention - Hoyeraal-Hreidarsson syndrome Not supplied. Diagnosis - Hoyeraal-Hreidarsson syndrome Not supplied. [checkorphan.org]

RTEL1 prevents genomic instability and maintains integrity of the telomeres by disassembling different secondary structures that arise during DNA replication, repair, and recombination. [cordis.europa.eu]

Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. [science.gov]