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Osteoporosis-Oculocutaneous Hypopigmentation Syndrome

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Presentation

  • Abstract An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation.[ncbi.nlm.nih.gov]
  • Slight darkening with age White to brown Creamy white to slate gray Pigmented nevi and freckles Absent Present Present Absent Present Many in exposed areas Present Hair color White throughout life; may become light yellow White to light yellow at birth[clinicalgate.com]
  • Many patients present with café au lait spots, which, in most individuals, are present at birth.[emedicine.medscape.com]
  • Larry Jameson, Joseph Loscalzo Search Textbook Autosuggest Results Part 1: General Considerations in Clinical Medicine Part 2: Cardinal Manifestations and Presentation of Diseases Part 3: Genes, the Environment, and Disease Part 4: Regenerative Medicine[accessmedicine.mhmedical.com]
  • A number of myopathies and neuropathies present as neonatal hypotonia, including some instances of spinal muscular atrophy. In these situations, poor respiratory effort may be present, a feature rarely seen in PWS.[nature.com]
Short Stature
  • Round back [ more ] 0002808 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Osteoporosis 0000939 Pallor 0000980 Platyspondyly Flattened vertebrae 0000926 Short[rarediseases.info.nih.gov]
  • Diseases related with Short stature and Pallor In the following list you will find some of the most common rare diseases related to Short stature and Pallor that can help you solving undiagnosed cases.[mendelian.co]
  • […] type Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Shwachman-Diamond syndrome Silver-Russell syndrome Silver-Russell[se-atlas.de]
  • Clinical findings include: Telangiectasias, short stature, malar erythema, recurrent infection, increased frequency of leukemia and lymphoma, normal intelligence.[quizlet.com]
  • May 1, 2017 By From Wikipedia, the free encyclopedia Acrofrontofacionasal dysostosis Acrofrontofacionasal dysostosis is an extremely rare disorder , characterized by intellectual disability , short stature, hypertelorism , broad notched nasal tip, cleft[checkrare.com]
Infertility
  • Treatment - Osteoporosis oculocutaneous hypopigmentation syndrome * Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Skin[checkorphan.org]
  • Infertility is the rule in both sexes, although a few instances of reproduction in females have been reported 27, 28 and presented (Vats and Cassidy, unpublished data).[nature.com]
  • […] syndrome Ramos-Arroyo syndrome Rare bone disease Rare circulatory system disease Rare developmental defect during embryogenesis Rare endocrine disease Rare genetic bone development disorder Rare genetic disease Rare gynecologic or obstetric disease Rare infertility[se-atlas.de]
Pallor
  • Retina issue 0000479 Albinism 0001022 Kyphosis Hunched back Round back [ more ] 0002808 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Osteoporosis 0000939 Pallor[rarediseases.info.nih.gov]
  • Diseases related with Short stature and Pallor In the following list you will find some of the most common rare diseases related to Short stature and Pallor that can help you solving undiagnosed cases.[mendelian.co]
  • Upon examination, multiple ecchymoses, jaundice, and pallor may be found.[emedicine.medscape.com]
Splenectomy
  • Turner syndrome Ovarian dwarfism Ovarian insufficiency due to FSH resistance ovarian remnant syndrome Overfolded helix Overgrowth radial ray defect arthrogryposis Overgrowth syndrome type Fryer Overhydrated hereditary stomatocytosis Overwhelming post-splenectomy[en.wikipedia.org]
  • Splenectomy is traditionally considered second-line therapy when initial steroid therapy fails to achieve a safe platelet count.[emedicine.medscape.com]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Visual Impairment
  • impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 Percent of people who have these symptoms is not available through HPO Generalized osteoporosis 0040160 Hypopigmentation of the skin Patchy lightened skin 0001010 Ocular albinism[rarediseases.info.nih.gov]
Hypopigmented Skin
  • skin, severe central nervous system dysfunction, and abnormal intracytoplasmic inclusions in fibroblasts, histiocytes, and lymphocytes. 76 – 78 Cutaneous findings Neonates have silvery hair and generalized hypopigmentation of the skin, which may develop[clinicalgate.com]
Osteoporosis
  • Overview A very rare syndrome characterized mainly by osteoporosis and reduced skin and eye pigmentation Symptoms - Osteoporosis oculocutaneous hypopigmentation syndrome * Osteoporosis * Reduced skin pigmentation * Reduced eye pigmentation Causes - Osteoporosis[checkorphan.org]
  • Signs and Symptoms Generalized osteoporosis ... ...[familydiagnosis.com]
  • Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.[ncbi.nlm.nih.gov]
  • Orpha Number: 2786 Disease definition Osteoporosis -oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature.[rarediseases.info.nih.gov]
Skeletal Dysplasia
  • dysplasia Wrinkly skin syndrome X-linked calvarial hyperostosis X-linked dominant chondrodysplasia punctata X-linked hypophosphatemia X-linked osteoporosis with fractures X-linked skeletal dysplasia-intellectual disability syndrome X-linked spondyloepimetaphyseal[se-atlas.de]
  • Dysplasia/Osteolysis Syndrome OMIM:165660 Oslam Syndrome OMIM:166350 Osseous Heteroplasia, Progressive; POH OMIM:165680 Ossicular Malformations, Familial OMIM:602475 Ossification of the Posterior Longitudinal Ligament of Spine; OPLL OMIM:165670 Ossified[informatics.jax.org]
Severe Osteoporosis
  • Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.[ncbi.nlm.nih.gov]
  • Read More lhope3 can-diet-supplements-and-exercise-reverse-osteoporosis 200113 I have posted before about not being able to take medications...I am 52 with severe Osteoporosis and already have a compound fracture in lower back...[inspire.com]
Platyspondyly
  • 0000479 Albinism 0001022 Kyphosis Hunched back Round back [ more ] 0002808 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Osteoporosis 0000939 Pallor 0000980 Platyspondyly[rarediseases.info.nih.gov]
  • "Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly". Am. J. Ophthalmol. 135 (5): 681–7. PMID 12719077. 32.0 32.1 Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH (2010).[wikidoc.org]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Visual impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 Percent of people who have these symptoms is not available through HPO Generalized osteoporosis 0040160 Hypopigmentation of the[rarediseases.info.nih.gov]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Seizure
  • NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA Is also known as narp syndrome;neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; neuropathy-ataxia-retinitis pigmentosa syndrome Related symptoms: Seizures Global developmental delay Short stature[mendelian.co]
  • […] polyhydramnios Abdomen External Features: diastasis recti inguinal hernia (in some patients) omphalocele (in some patients) Prenatal Manifestations Delivery: premature delivery low apgar scores Skeletal: joint contractures Neurologic Central Nervous System: seizures[malacards.org]
  • Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006.[disorders.eyes.arizona.edu]
  • -These individuals will have hair abnormalities such as sparse, hypopigmented brittle hair, eyelashes and eyebrows, lax skin, a "cupid's bow" upper lip -pili torti, trichorrhexis nodosa, short, britle hair -CNS progressive deterioration, seizures, skeletal[quizlet.com]
  • Neurological abnormalities range from severe hypotonia and the almost complete absence of movements, to seizures and spasticity.[clinicalgate.com]
Nystagmus
  • Showing of 13 80%-99% of people have these symptoms Abnormal retinal morphology Retina issue 0000479 Albinism 0001022 Kyphosis Hunched back Round back [ more ] 0002808 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Nystagmus[rarediseases.info.nih.gov]
  • Other ocular findings include nystagmus, reduced retinal pigment, and foveal hypoplasia with significant reduction in visual acuity. The nystagmus is most obvious during periods of fatigue or emotional change.[clinicalgate.com]
  • Nystagmus An involuntary back-and-forth movement of the eyes that is often found in albinism. Strabismus Crossed or "lazy" eyes, often found in albinism.[the-medical-dictionary.com]
  • Hypoglycemia Renal agenesis Distal muscle weakness Microcephaly Rod-cone dystrophy Optic disc pallor Abnormality of cardiovascular system morphology Sensory axonal neuropathy Mitochondrial myopathy Microphthalmia Thrombocytopenia Abnormal heart morphology Nystagmus[mendelian.co]
  • Iris transillumination defects, nystagmus, and strabismus are common features. Visual acuity is usually stable in the range of 20/40-20/300 and often accompanied by photophobia.[disorders.eyes.arizona.edu]
Meningism
  • […] retardation blindness Osteoporosis oculocutaneous hypopigmentation syndrome Osteoporosis pseudoglioma syndrome Osteoporosis Osteosarcoma limb anomalies erythroid macrocytosis Osteosclerose type Stanescu Osteosclerosis abnormalities of nervous system and meninges[en.wikipedia.org]
  • Osteosclerosis abnormalities of nervous system and meninges[?] Osteosclerosis autosomal dominant Worth type[?] Osteosclerosis[?] Ostertag type amyloidosis[?] Ota Kawamura Ito syndrome[?] Oto palato digital syndrome type I and II[?][encyclopedia.kids.net.au]
  • Leukemia cutis is strongly associated with extramedullary involvement of other sites, including the meninges.[emedicine.medscape.com]
Hyperalgesia
  • Oneirophobia Onychocryptosis Onychogryphosis Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychonychia hypoplastic distal phalanges Onychophosis Onychotrichodysplasia and neutropenia Op [ edit ] Opi-Ops [ edit ] Opioid dependence Opioid-induced hyperalgesia[en.wikipedia.org]

Workup

  • BP2– BP3) deletions. 131, 132 Two other studies found much less clinically significant differences between individuals with these two deletion types. 133, 134 Diagnostic Testing DNA methylation analysis is the most efficient way to start the genetic workup[nature.com]

Treatment

  • More Symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome » Diagnosis See also related information on diagnosis: Diagnosis of Osteoporosis Treatments See also the following treatment articles: Treatments for Osteoporosis Causes See also causal[familydiagnosis.com]
  • Treatment - Osteoporosis oculocutaneous hypopigmentation syndrome * Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Skin[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Two common types of dog arthritis are rheumatoid arthritis and Treatment. Read about gouty arthritis causes (high redness and sharp pain in your big Bpac Arthritis Treatment Nails Psoriatic toe.[youthcandoitproject.eu]
  • Osteoporosis: Taking Calcium and Vitamin D Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ ): Treatment - Patient Information [NCI] Osteosarcoma/Malignant Fibrous Histiocytoma of Bone Treatment (PDQ ): Treatment - Health Professional[healthmedicinet.com]

Prognosis

  • Diagnosis - Osteoporosis oculocutaneous hypopigmentation syndrome Home medical testing related to Osteoporosis - oculocutaneous - hypopigmentation syndrome: * Osteoporosis & Bone Health: Home Testing: o Home Osteoporosis Tests o Home Bone Loss Tests Prognosis[checkorphan.org]
  • -CCS is a progressive disease, and often carriers a poor prognosis primarily because of difficulties with fluid and electrolyte management. - transmitted in an X-linked recessive manner - caused by a mutation in ATP7A, an ATP-dependent copper tranporter[quizlet.com]
  • The prognosis for leukemia cutis is related directly to the prognosis for the systemic disease. Therapy is usually directed at the underlying leukemia.[emedicine.medscape.com]
  • Prognosis In the United States, people with this condition can expect to have a normal lifespan. People with albinism may experience some social problems because of a lack of understanding on the part of others.[the-medical-dictionary.com]
  • Treatment and care Treatment is supportive and prognosis is poor.[clinicalgate.com]

Etiology

  • The patient may represent a hitherto undescribed syndrome of unknown etiology.[ncbi.nlm.nih.gov]
  • Vitamin-D etiological hypothesis and autism Environmental as well as genetic factors are important in the etiology of autism (24).[hypothesisjournal.com]
  • Etiology and pathogenesis OCA4 results from mutations in the SLC45A2 gene, which is mapped to chromosome 5p13.2.[clinicalgate.com]
  • In this review, painful BME will be separated into three different etiological groups. Group 1 ischemic BME: osteonecrosis, osteochondritis dissecans, bone marrow edema syndrome and complex regional pain syndrome.[glosbe.com]
  • The risk to the child of an affected individual depends on the etiology of the PWS and the sex of the affected individual.[nature.com]

Epidemiology

  • Hence, more epidemiological and genetic studies of autism in tropical regions such as sub-Saharan Africa are warranted.[hypothesisjournal.com]
  • Based on clinical experience and epidemiologic studies, the causes of leg ulceration can be divided into 3 categories: reduction in blood supply to the skin (infarction being the primary cause), local edema, and minor trauma.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • It has been suggested that this association may be due either to tight linkage between genes underlying autism and those underlying the hypomelanotic skin disorders, or to shared brain pathophysiology (18).[hypothesisjournal.com]

Prevention

  • Prevention - Osteoporosis oculocutaneous hypopigmentation syndrome Not supplied.[checkorphan.org]
  • Health Qigong () treatment has been used extensively in China for its preventive and curative properties to help preventing and overcoming illnesses.[youthcandoitproject.eu]
  • Read More Rukhsana_Faiz osteoporosis-prevention 200113 Hi, I am diagnosed osteoporosis patient how could I prevent my bones for further loss ...[inspire.com]
  • Prevention Genetic counseling is very important to prevent further occurrences of the condition. Key Terms Amino acids Natural substances that are the building blocks of protein.[the-medical-dictionary.com]
  • These results would also support clinical inves-tigations of whether vitamin-D supplements may aid treatment and prevention of autism.[hypothesisjournal.com]

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