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150 Possible Causes for Cerebellar Hypoplasia, Oral Leukoplakia, Osteoporosis

  • Dyskeratosis Congenita

    Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia.[ncbi.nlm.nih.gov] The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia.[ncbi.nlm.nih.gov] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov]

  • Hoyeraal-Hreidarsson Syndrome

    […] failure, peripheral pancytopenia ( 93%) Others signs: Oesophageal stricture (14%) Pulmonary fibrosis (19%) Liver cirrhosis (5%) Hypogonadism (8%) Abnormal bone trabeculation, osteoporosis[atlasgeneticsoncology.org] leukoplakia.[ncbi.nlm.nih.gov] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Dyskeratosis Congenita 2

    It is variably accompanied by premature greying, aplastic anaemia, low platelets, osteoporosis, pulmonary fibrosis and liver fibrosis.[medical-dictionary.thefreedictionary.com] […] dys·ker·a·to·sis con·gen·'i·ta [MIM*305000] nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly[medical-dictionary.thefreedictionary.com] hypoplasia.[disorders.eyes.arizona.edu]

  • Dyskeratosis Congenita Type Scoggins

    Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others.[uniprot.org] The syndrome is a rare, bone marrow failure syndrome characterized by three features: reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia.[healthcaremagic.com] hypoplasia.[disorders.eyes.arizona.edu]

  • Revesz Syndrome

    Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others.[genecards.org] Thus the former exhibit features that are typical of DC, such as abnormal nail formation, skin hyperpigmentation, and oral leukoplakia.[symptoma.com] Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia.[ncbi.nlm.nih.gov]

  • X-Linked Osteoporosis with Fractures

    […] formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis[ncbi.nlm.nih.gov] Prominent manifestations include nail dysplasia, oral leukoplakia, abnormal dentition, and reticulated skin pigmentation. Some patients have cognitive impairments.[disorders.eyes.arizona.edu] Osteoporosis with fractures as an X-linked trait has been reported by Sillence. 8 We now report data from five families with X-linked osteoporosis and fractures related to[nejm.org]

  • Congenital Aplastic Anemia

    […] heterogeneous Pancytopenia – mainly neutropenia, but also anemia, thrombocytopenia Congenital abnormalities – exocrine pancreatic insufficiency, skeletal abnormalities such as osteoporosis[pediatriceducation.org] Her weight was 27 kg (below 3 rd percentile), height was 137 cm (below 3 rd percentile), and had dystrophic nails, alopecia, and oral leukoplakia [Figure 1] a and [Figure[ijpd.in] […] growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.[wikidata.org]

  • Osteoporosis-Oculocutaneous Hypopigmentation Syndrome

    Diagnosis - Osteoporosis oculocutaneous hypopigmentation syndrome Home medical testing related to Osteoporosis - oculocutaneous - hypopigmentation syndrome: * Osteoporosis[checkorphan.org] […] facial digital syndrome type 3 Oral facial digital syndrome type 4 Oral facial digital syndrome Oral facial dyskinesia Oral leukoplakia Oral lichen planus Oral lichenoid[en.wikipedia.org] A #212500 Cataract, Hutterite-type H #224050 Cerebellar Hypoplasia, VLDLR-Associated H 236450 Cerebro-osteo-nephrodysplasia H #214400 Charcot-Marie-Tooth Disease, Type 4A[biochemgenetics.ca]

  • Singleton Merten Syndrome

    There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] Prominent manifestations include nail dysplasia, oral leukoplakia, abnormal dentition, and reticulated skin pigmentation. Some patients have cognitive impairments.[disorders.eyes.arizona.edu] hypoplasia X-linked recessive inheritance Hypertonia Wide nose Hydrocephalus Brachydactyly High palate Cataract Palmoplantar cutis gyrata Abnormality of primary teeth Slender[mendelian.co]

  • Oculorenocerebellar Syndrome

    Abbreviations Meaning OPDS Otopalatodigital Syndrome OPS Operations; Optical Position Sensor; Osteoporosis-pseudolipoma Syndrome; Outpatient Service; Outpatient Surgery OPS[medicabbreviations.com] Oral facial digital syndrome type 3[?] Oral facial digital syndrome type 4[?] Oral facial digital syndrome[?] Oral facial dyskinesia[?] Oral leukoplakia[?][encyclopedia.kids.net.au] Brain sections at autopsy of one case showed cerebellar hypoplasia with disorganization and a lack of the granular layer.[wohproject.org]

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