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]

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sexes, although a few instances of reproduction in females have been reported 27, 28 and presented (Vats and Cassidy, unpublished data).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]

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]

Haemochromatosis, Hypophosphatemic rickets, Infantile sialic acid storage disorder, Lysinuric protein intolerance, Menkes Disease, Methylmalonic acidemia, Oxalosis, Peroxisomal bifunctional enzyme deficiency, Prolidase deficiency, Protein deficiency, Underweight [wikidoc.org]

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]

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]

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]

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]

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]

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]

[…] 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]

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]

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]

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]