Presentation
ORPHA:1811 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: - OMIM: 601319 UMLS: C1832473 MeSH: C537741 GARD: 4053 MedDRA: - The documents contained in this web site are presented for information purposes only [orpha.net]
The teeth most often present include front teeth (central incisors), teeth normally located next to the incisors (canines), and/or, in some cases, one or more molars. [rarediseases.org]
In the full report with illustrations (Partington, 1986), the pigmentary anomaly was presented as quite different from cafe-au-lait spots. The changes were progressive, starting at age 1 year in the younger child. [findzebra.com]
CD4 T helper cells recollect antigenic peptides presented during MHC Order II molecules on antigen-presenting cells (APC). [nhha.org]
Entire Body System
-
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]
-
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 [wikidoc.org]
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 [enacademic.com]
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 [ipfs.io]
-
Nail Abnormality
Genet. (1999) [ Pubmed ] Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Heimler, A., Fox, J.E., Hershey, J.E., Crespi, P. Am. J. Med. [wikigenes.org]
N ¼ 2 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) Pachyonychia congenita, autosomal recessive Reference (OMIM, whenever [docksci.com]
-
Nail Abnormality
Genet. (1999) [ Pubmed ] Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Heimler, A., Fox, J.E., Hershey, J.E., Crespi, P. Am. J. Med. [wikigenes.org]
N ¼ 2 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) Pachyonychia congenita, autosomal recessive Reference (OMIM, whenever [docksci.com]
Skin
-
Eruptions
It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. [ncbi.nlm.nih.gov]
Symptoms via clinical synopsis from OMIM: 57 Teeth: precocious eruption and shedding of deciduous teeth precocious eruption of secondary teeth short rhomboid tooth roots Nails: short, thin, slow growing nails Clinical features from OMIM: 601319 Human [malacards.org]
-
Short Nails
[…] short rhomboid tooth roots Nails: short, thin, slow growing nails Clinical features from OMIM: 601319 Human phenotypes related to Odontomicronychial Dysplasia: 59 32 (show all 7) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 short [malacards.org]
nail Short nails 0001799 Slow-growing nails 0008383 Thin nail Thin nails 0001816 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Showing of 6 Last updated: 3/1/2019 If you need medical advice [rarediseases.info.nih.gov]
-
Exanthema
The four viral exanthema have much in common, and are often studied together as a class. They include: Name Number Virus (rubeola) measles "first disease" measles virus rubella, ("German Measles") identified in 1881. [findzebra.com]
Neurologic
-
Hyperalgesia
Ondine's curse Oneirophobia Onychocryptosis Onychogryphosis Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychonychia hypoplastic distal phalanges Onychophosis Onychotrichodysplasia and neutropenia Op Opi-Ops Opioid dependence Opioid-induced hyperalgesia [ipfs.io]
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
Serum
-
Macrocytosis
Osteopetrosis, mild autosomal recessive form Osteopoikilosis Osteoporosis macrocephaly mental retardation blindness Osteoporosis oculocutaneous hypopigmentation syndrome Osteoporosis pseudoglioma syndrome osteoporosis Osteosarcoma limb anomalies erythroid macrocytosis [wikidoc.org]
[…] mild autosomal recessive form * Osteopoikilosis * Osteoporosis macrocephaly mental retardation blindness * Osteoporosis oculocutaneous hypopigmentation syndrome * Osteoporosis pseudoglioma syndrome * osteoporosis * Osteosarcoma limb anomalies erythroid macrocytosis [enacademic.com]
[…] osteoporosis Osteosarcoma limb anomalies erythroid macrocytosis[?] Osteosclerose type Stanescu[?] Osteosclerosis abnormalities of nervous system and meninges[?] Osteosclerosis autosomal dominant Worth type[?] Osteosclerosis[?] [encyclopedia.kids.net.au]
Osteopetrosis, mild autosomal recessive form Osteopoikilosis Osteoporosis macrocephaly mental retardation blindness Osteoporosis oculocutaneous hypopigmentation syndrome Osteoporosis pseudoglioma syndrome Osteoporosis Osteosarcoma limb anomalies erythroid macrocytosis [ipfs.io]
Treatment
Considerable strides have been made in the treatment of fungal diseases (onychomycoses) with the appearance of new therapeutic agents. [books.google.com]
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]
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]
Prognosis
Removed metastasis-free survival at 5 years was 93 % in the service of patients with a upstanding prognosis signature and 72 % for those with ruined prognosis signature, but this argument was not statistically extraordinary in this cohort (P 0.07). [nhha.org]
Prognosis of cerebral fashion and dural sinus thrombosis: results of the Ecumenical About on Cerebral Hint and Dural Sinus Thrombosis (ISCVT). [astakask.com]
Prognosis Café au lait spots are benign and do not cause any ailment themselves. Treatment They can be treated with lasers. [findzebra.com]
Etiology
Etiology The overwhelming majority of neutrophilic eccrine hidradenitis (NEH) is seen in patients with cancer, especially leukaemia, who receive chemotherapy with a cytotoxic drug. [findzebra.com]
Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. [docksci.com]
[…] declaration is that since the publication of the multifarious epidemiological stud- ies on which the guidelines were based, there obtain been exactly thousands of stud- ies detailing assorted of the biochemical and molecular events that are a division of the etiology [nhha.org]
Shashikiran at [email protected] Abstract The prevalence, possible etiological factors and management of multiple missing primary teeth was briefly reviewed. Oligodontia of the primary dentition is a rare finding. [mafiadoc.com]
Shashikiran at [email protected] Abstract The prevalence, possible etiological factors and management of multiple missing pri- mary teeth was briefly reviewed. Oligodontia of the primary dentition is a rare finding. [anyflip.com]
Epidemiology
Slone Epidemiology Unit, Boston University School of Medicine, 1010 Commonwealth Ave, Boston, MA 02215. [email protected] Lesko, SM, Louik C, Vezina RM, Mitchell AA. Asthma morbidity after the short-term use of ibuprofen in children. [mafiadoc.com]
Slone Epidemiology Unit, Boston University School of Medicine, 1010 Commonwealth Ave, Boston, MA 02215. [email protected] Lesko, SM, Louik C, Vezina RM, Mitchell AA. Asthma morbidity after the short-term use of ibuprofen in children. [anyflip.com]
Community dentistry and oral epidemiology. (1981) [ Pubmed ] Minocycline-induced staining of torus palatinus and alveolar bone. Ayangco, L., Sheridan, P.J. J. [wikigenes.org]
The simple declaration is that since the publication of the multifarious epidemiological stud- ies on which the guidelines were based, there obtain been exactly thousands of stud- ies detailing assorted of the biochemical and molecular events that are [nhha.org]
Prevention
Subbareddy is professor, Department of Pedodontics and Preventive Dentistry, College of Dental Sciences, Davanagere, Karnataka, India. Correspond with Dr. [mafiadoc.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
General dentists or periodontal dentists can provide regular preventative dental care and restorative service as indicated. [emedicine.medscape.com]