Disccusion Including our patient, eight patients presenting with a syndrome (S) of onychotrichodysplasia (0) and chronic neutropenia (N) are known. [myslide.es]

[…] syndrome Trichothiodystrophy type G Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 258360 UMLS: C1850316 MeSH: - GARD: 10161 MedDRA: - Summary This disease has been moved to Trichothiodystrophy The documents contained in this web site are presented [orpha.net]

Supernumerary teeth present in cleidocranial dysplasia can lead to delayed or absent eruption of permanent teeth (Fig. 7). [journals.lww.com]

Examples Word capitals, Food (spanish), Ancient Rome Studylib Collections Combine documents, presentations and flashcards in study collections. Create a collection for specific lesson or subject and share it with your students or friends. [studylib.net]

• Short Stature

  Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010 ). [mendelian.co]

  stature with pigmented nevi (Mulvihill–Smith syndrome) Rodrigues blindness (Microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities) Trichodental dysplasia Trichodysplasia and amelogenesis imperfect Uncombable [docksci.com]

  Type D BIDS BIDS is an acronym for brittle hair, intellectual deficit, decreased fertility and short stature. The syndrome was first described in an Amish family. BIDS is associated with the MPLKIP (TTDN1) gene. [de.zxc.wiki]

  stature - webbed neck - heart disease 4 cases 2772 CODAS syndrome2820 4 cases 3 cases94095 Simpson-Golabi-Behmel syndrome type 2 4 cases 1389 Congenital enterocyte heparan sulfate deficiency 3 cases93352 Sparse hair - short stature - skin anomalies 4 [fliphtml5.com]

  […] small sella turcica Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone resistance Short stature due to growth hormone secretagogue receptor deficiency Short stature due to isolated [csbg.cnb.csic.es]

• Disability

  Diseases related with Intellectual disability and Sparse hair In the following list you will find some of the most common rare diseases related to Intellectual disability and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]

  Cartwright Nelson Fryns syndrome 0 *Fetal Growth Retardation *Intellectual Disability *Nails, Malformed *Limb Deformities, Congenital. [reference.md]

  dysmorphism Hypotonia with lactic acidemia and hyperammonemia AREDYLD syndrome intellectual disability - cataracts - kyphosis Autosomal recessive amelia intellectual disability - hypoplastic corpus Autosomal recessive limb-girdle muscular callosum [fliphtml5.com]

  […] syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Amelocerebrohypohidrotic syndrome Ameloonychohypohidrotic syndrome [se-atlas.de]

  [MIM 243 310, 614 583] ( ptosis-iridic coloboma-intellectual disability syndrome, cerebro-fronto-facial syndrome type 3) Estimated prevalence at < 1 / 10 6. Autosomal dominant transmission or de novo mutation. [sites.uclouvain.be]

• Recurrent Infection

  The patients suffer Recurrent infections, which may be responsible for their mild psychomotor retardation. Less than ten cases have been reported. It is an autosomal recessive disorder, due to a deficiency in sulfur-rich proteins. [codelay.com]

  Recurrent infections affect mainly the upper respiratory tract and urogenital system. Chronic irritative conjunctivitis is a feature in all patients. [myslide.es]

  infections Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ] 0002719 Short eyelashes Decreased length of eyelashes 0010764 Sparse pubic [rarediseases.info.nih.gov]

• Nail Abnormality

  Examples Yellow Nail Syndrome Other names Nail, Malformed; Nail, Abnormal; Nail Abnormality; Malformed Nails; Malformed Nail; Abnormality, Nail; Abnormalities, Nail; Abnormal Nails; Abnormal Nail; Pachyonychia; Nails, Abnormal; Nail Abnormalities Substance [reference.md]

  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]

• Vomiting

  SYNDROME Cyclic Vomiting Syndrome Association 13180 Caroline Ct. [thefreelibrary.com]

  […] syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphyseal dysplasia - anemia Diaphyseal medullary stenosis - bone malignancy Diaphyseal medullary stenosis - malignant fibrous histiocytoma Diarrhea-vomiting [csbg.cnb.csic.es]

• Alopecia

  Alopecia: syndromes of genetic significance. J Invest Dermatol 1973:60:475–492. PubMed CrossRef Google Scholar 4. Sâlamon T. Hypotrichosis and alopecia in cases of genodermatosis. In: Orfanos CE, Montagna W, Stüttgen G, eds. [link.springer.com]

  Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual [se-atlas.de]

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

  eclabion, ectropion, and mental retardation Lymphedema-hypoparathyroidism syndrome Monilethrix Onychotrichodysplasia and neutropenia Palmoplantar keratoderma and congenital alopecia, autosomal dominant (alopecia congenita with keratosis palmoplantaris [docksci.com]

  Alopecia universalis onychodystrophy vitiligo 0 *Alopecia *Nails, Malformed *Vitiligo. Tonoki syndrome 0 *Growth Disorders *Intellectual Disability *Nails, Malformed *Brachydactyly. [reference.md]

• Sparse Hair

  Diseases related with Intellectual disability and Sparse hair In the following list you will find some of the most common rare diseases related to Intellectual disability and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]

  In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

  hair Osteopetroses Osteopetrosis and infantile neuroaxonal dystrophy Osteopetrosis autosomal dominant type 1 Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 1 Osteopetrosis autosomal recessive 2 Osteopetrosis autosomal recessive [personalizedcause.com]

  […] dysplasia, hereditary, Marshall syndrome, Oculodentodigital displasia, Odontoonychodermal dysplasia, Odontotrichomelic syndrome, Onychotrichodysplasia and neutropenia, Orofaciodigital syndrome type I, Rothmund-Thomson syndrome, Taurodontia, absent teeth and sparse [geneskin.org]

  […] keratoderma syndrome Smouldering systemic mastocytosis Sparse hair-short stature-skin anomalies syndrome Spinocerebellar ataxia type 34 Steatocystoma multiplex-natal teeth syndrome Stiff skin syndrome Striate palmoplantar keratoderma Subacute cutaneous [se-atlas.de]

• Sparse Hair

  Diseases related with Intellectual disability and Sparse hair In the following list you will find some of the most common rare diseases related to Intellectual disability and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]

  In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

  hair Osteopetroses Osteopetrosis and infantile neuroaxonal dystrophy Osteopetrosis autosomal dominant type 1 Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 1 Osteopetrosis autosomal recessive 2 Osteopetrosis autosomal recessive [personalizedcause.com]

  […] dysplasia, hereditary, Marshall syndrome, Oculodentodigital displasia, Odontoonychodermal dysplasia, Odontotrichomelic syndrome, Onychotrichodysplasia and neutropenia, Orofaciodigital syndrome type I, Rothmund-Thomson syndrome, Taurodontia, absent teeth and sparse [geneskin.org]

  […] keratoderma syndrome Smouldering systemic mastocytosis Sparse hair-short stature-skin anomalies syndrome Spinocerebellar ataxia type 34 Steatocystoma multiplex-natal teeth syndrome Stiff skin syndrome Striate palmoplantar keratoderma Subacute cutaneous [se-atlas.de]

• Photosensitivity

  Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive Trichothiodystrophy 4, Nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive Ulnar-Mammary Syndrome Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and [nfed.org]

  Type F PIBIDS In addition to type E, the PIBIDS syndrome also contains photosensitivity ( P ). Type G ONMR SIBIDS has osteosclerosis ONMR syndrome for onycho-tricho-dysplasia - neutropenia, Itin syndrome according to a publication from 1991. [de.zxc.wiki]

  PHOTOSENSITIVITY Bloom syndrome Hartnup disorder Kindler syndrome Polymorphous light eruption Rothmund-Thomson syndrome Xeroderma pigmentosum 14. [barnesandnoble.com]

• Brittle Hair

  Onycho-tricho-dysplasia – neutropenia syndrome Onychotrichodysplasia - neutropenia (ONMR syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by hypoplastic fingernails, trichorrhexis, Chronic neutropenia, and mild [codelay.com]

  Τριχο- trichomes "hair", θειον = "sulfur" δυσ- (dys) 'mis-, un-' and πλάσειν (plasein) 'form, shape), short TTD is a heterogeneous group of diseases with the hallmarks of short, brittle hair with low sulfur content. root cause This is due to a disruption [de.zxc.wiki]

  Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Rapp-Hodgkin Syndrome Rosselli-Gulienetti Syndrome Rothmund-Thomson Syndrome Sabinas Brittle [nfed.org]

  It is usually associated with sulfur-deficient hair in trichothiodystrophy. *Trichothiodystrophy[2] - It is a rare disorder characterized by sulfur deficient, brittle hair along with wide range of clinical manifestations. [go.galegroup.com]

  It is usually associated with sulfur-deficient hair in trichothiodystrophy. Trichothiodystrophy [2] – It is a rare disorder characterized by sulfur deficient, brittle hair along with wide range of clinical manifestations. [ijdvl.com]

• Psychomotor Retardation

  borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Lymphocytosis High lymphocyte count 0100827 Neutropenia Low blood neutrophil count Low neutrophil count [ more ] 0001875 Psychomotor retardation 0025356 [rarediseases.info.nih.gov]

• Irritability

  Showing of 15 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Chronic irritative conjunctivitis 0007717 Chronic neutropenia 0410252 Concave nail [rarediseases.info.nih.gov]

  Chronic irritative conjunctivitis is a feature in all patients. Infections affected the central nervous system in two cases and meningitis was the cause of death in one patient (Hernandez et a]. 1979). [myslide.es]

• Tremor

  […] tubular acidosis, distal 150 Spherocytosis hereditary 150 Elejalde syndrome 151 Griscelli disease 151 Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism 152 Tricho-dento-osseous syndrome 152 Fragile X syndrome 153 Fragile X-associated tremor [research.cchmc.org]

  […] lichen Bonnet-Dechaume-Blanc syndrome Endocardial fibroelastosis decalvans cum ophiasi Keratosis follicularis spinulosa myxedematosus GSM 1 Book syndrome EFE endocardial fibroelastosis (EFE) and congenital cataracts decalvans Lichenoid papular eruption Tremor [yumpu.com]

  […] tract, trainer, trait, transaminase, transcobalamin, transfer, transferase, transfusion, transgrediens, transient, translocase, transpeptidase, transplant, transplantation, transport, transporter, transposition, transverse, trauma, traumatic, treatment, tremor [rapsodyonline.eurordis.org]

  […] cases69077 Rhabdoid tumor 500 cases 679 Malignant atrophic papulosis > 200 cases22 4-hydroxybutyric aciduria 450 cases 48652 Monosomy 22q13 > 200 cases35125 Epidermal nevus syndrome > 400 cases 1063 Tufted angioma > 200 cases238606 Primary orthostatic tremor [fliphtml5.com]

  International Tremor Foundation 7046 W. 105th St. [thefreelibrary.com]

• Dysarthria

  […] dwarfism 146 Autosomal dominant Charcot-Marie-Tooth disease, type 2D 147 Distal hereditary motor neuropathy, type 5 147 Alpers syndrome 148 Ataxia, mitochondrial recessive, syndrome 148 Progressive external ophthalmoplegia 148 Sensory ataxic neuropathy - dysarthria [research.cchmc.org]

  […] duane-radial, dubin-johnson, dubowitz, duct, ducts, ductus, due, dumoulin, dundar, dungan, dunnigan, duodenal, duplication, duplication, duplication, duplications, dupont, dupuytren, dural, during, dwarfism, dyad, dyggve-melchior-clausen, dykes-markes-harper, dysarthria [rapsodyonline.eurordis.org]

  Sensorineural deafness with dilated cardiomyopathy Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss - pontobulbar palsy Sensorineural hearing loss with dilated cardiomyopathy Sensory ataxic neuropathy - dysarthria [csbg.cnb.csic.es]

Workup of familial fibrous dysplasia should include a complete skeletal survey.3,12 While premature exfoliation is often the result of a congenital or systemic condition, delayed exfoliation is seen in association with local factors, such as infraocclusion [journals.lww.com]

• Neutropenia

  Onycho-tricho-dysplasia – neutropenia syndrome Onychotrichodysplasia - neutropenia (ONMR syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by hypoplastic fingernails, trichorrhexis, Chronic neutropenia, and mild [codelay.com]

  Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report. [myslide.es]

  Registries for Onychotrichodysplasia and neutropenia: The Severe Chronic Neutropenia International Registry Learn More Learn More These resources provide more information about this condition or associated symptoms. [rarediseases.info.nih.gov]

• Lymphocytosis

  Al- though T and B lymphocytes and T cell subsets are present in normal numbers and respond ad- equately to in vitro stimulation with mitogens, com- pensatory lymphocytosis and monocytosis are common features. [myslide.es]

  Curly hair 0002212 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Lymphocytosis [rarediseases.info.nih.gov]

• Leukopenia

  […] atrophy Ketotic hy per glycinemia ofd1 optica Encephalopathy subacute Propionyl-CoA carboxylase MFH spongiform deficiency OFD syndrome 1 TMNO Encephalopathy with Hy per glycinemia with ketoacidosis Hardcastle syndrome neuroserpin inclusion bodies and leukopenia [yumpu.com]

  RAG1/2 deficiency SCID due to CORO1A deficiency SCID due to coronin-1A deficiency SCID due to DCLRE1C deficiency SCID due to DNA-PKcs deficiency SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency SCID with leukopenia [csbg.cnb.csic.es]

  Syndrome HYPERAMMONEMIA See: Urea Cycle Disorders HYPERCALCEMIA SYNDROME, INFANTILE, IDIOPATHIC See: Williams Syndrome HYPERGLYCINEMIA-SUPRAVALVAR AORTIC STENOSIS See: Williams Syndrome HYPERCYSTINURIA See: Cystinuria HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA [thefreelibrary.com]

• Cytopenia

  currarino, cushing, cutaneous, cutis, cutler, cvid, cyclase, cyclic, cyclosporosis, cylindromatosis, cyprus, cyst, cystathioninuria, cystic, cysticercosis, cystinosis, cystinuria, cystitis, cystoid, cysts, cytochrome, cytomegalovirus, cytopathies, cytopenia [rapsodyonline.eurordis.org]

Hair Scalp Hair Autosomal Dominant Phenotypes Pathogenesis and Clinical Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment [books.google.de]

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]

These patients should undergo further evaluation, and treatment.1 Treatment of tooth agenesis requires a multidisciplinary team of dentists, orthodontists, prosthodontists, and surgeons. [journals.lww.com]

Treatment - Ectodermal dysplasias No cure for the underlying causes of Ectodermal Dysplasia is known. Treatment is directed at symptoms. Over the counter creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. [checkorphan.org]

Diagnosis - Ectodermal dysplasias Prognosis - Ectodermal dysplasias Having ectodermal dysplasia will not shorten your life span, but you must pay constant attention to temperature regulation and other problems associated with this condition. [checkorphan.org]

Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology [books.google.de]

There is often an underlying etiology if an infant does not have teeth by age 1 year. [journals.lww.com]

[…] diagnosis includes other visually similar conditions affecting the hair follicles, many of which appear as drug side effects. [1] A proposed classification system lists TS as one of a group of cutaneous conditions with similar manifestations and distinct etiologies [checkrare.com]

Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. [docksci.com]

Epidemiology The exact prevalence is unknown. Inheritance is autosomal - recessive. [de.zxc.wiki]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

American Journal of Epidemiology. 183 (1): 61–9. doi : 10.1093/aje/kwv155. PMID 26667254. ^ a b Kazem, Siamaque; van der Meijden, Els; Wang, Richard C.; Rosenberg, Arlene S.; Pope, Elena; Benoit, Taylor; Fleckman, Philip; Feltkamp, Mariet C. [checkrare.com]

Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva. Dermatology 1998;197:69-70. 67. [go.galegroup.com]

Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. [ PUBMED ] [Full text] 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva. [ijdvl.com]

Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology and Pathogenesis Hypomelanotic Hair Disorders 2Modelsfor Cultivating Follicular Keratinocytes In Vitro Pathophysiological [books.google.de]

Anhidrotic ectodermal dysplasia Symptoms - Ectodermal dysplasias Causes - Ectodermal dysplasias Prevention - Ectodermal dysplasias If you have a family history of ectodermal dysplasia and you are planning to have children, genetic counseling is recommended [checkorphan.org]

Management of dentinal defects focuses on prevention of tooth erosion, maintenance of tooth height, and improvement of dental appearance. [journals.lww.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]