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]

• Short Stature

  STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES Short Stature, Onychodysplasia, Facial Dysmorphism, and [rgd.mcw.edu]

  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]

  Immunol. (2002) [ Pubmed ] A subject with abnormally short stature from Imperial Rome. Ottini, L., Minozzi, S., Pantano, W.B., Maucci, C., Gazzaniga, V., Angeletti, L.R., Catalano, P., Mariani-Costantini, R. J. Endocrinol. [wikigenes.org]

  stature - obesity Xeroderma pigmentosum Xeroderma pigmentosum, type 9 Xeroderma pigmentosum, variant type Yellow nail syndrome Yemenite deaf-blind hypopigmentation syndrome Zlotogora syndrome Types of the condition may include: 4 Types of Skin Disorders [familydiagnosis.com]

  Stature and Recurrent Metabolic Acidosis OMIM:166970 Ovarian Fibromata OMIM:603737 Ovarian Germ Cell Cancer OMIM:608115 Ovarian Hyperstimulation Syndrome; OHSS OMIM:185000 Overhydrated Hereditary Stomatocytosis; OHST [informatics.jax.org]

• Lymphedema

  […] lipoatrophic diabetes Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Amelo-onycho-hypohidrotic syndrome Anhidrotic ectodermal dysplasia with immune deficiency Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema [healthprovidersdata.com]

  […] and cerebral arteriovenous anomaly Lymphedema-distichiasis syndrome Lymphocytic infiltrate of Jessner Lymphomatoid papulosis Macrocephaly-capillary malformation Macules hereditary congenital hypopigmented and hyperpigmented Maffucci syndrome Majeed syndrome [familydiagnosis.com]

  Acrootoocular Syndrome Adams-Oliver syndrome + ADULT syndrome Al Gazali Aziz Salem Syndrome Al Gazali Hirschsprung Syndrome Alves Castelo dos Santos Syndrome Anal Sphincter Dysplasia Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema [rgd.mcw.edu]

• 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]

• Sneezing

  […] reflex) (Szeezing from light expose) (Peroutka sneeze) 10 101000 Neurofibromatosis, type II (NF2) (Neurofibromatosis, central type) (Acoustic schwannoma, bilateral) (Bilateral acoustic neurofibromatosis; BANF) (Acoustic neurinoma, bilateral; ACN) 11 [becomerich.lab.u-ryukyu.ac.jp]

  Squamous Cell Carcinoma Factor 8 Deficiency, Acquired Fairbank Disease Familial Dermographism Familial Hyperbeta- And Prebetalipoproteinemia Familial Myelofibrosis Familial Primary Gastric Lymphoma Familial Streblodactyly Freiberg's Disease Gastric Sneezing [empiregenomics.com]

• Retinal Pigmentation

  Pigment Abnormalities Ramos Arroyo Clark Syndrome Rapp-Hodgkin syndrome Renal and Mullerian Duct Hypoplasia + Renal Dysplasia - Limb Defects Syndrome Retinitis Pigmentosa Inversa with Deafness Robin Sequence with Distinctive Facial Appearance and Brachydactyly [rgd.mcw.edu]

• 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]

  […] and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. [orpha.net]

  Showing of 6 | 80%-99% of people have these symptoms Premature eruption of permanent teeth Early eruption of adult teeth Early eruption of permanent teeth Premature eruption of adult teeth [ more ] 0006337 Premature loss of primary teeth Early loss of [rarediseases.info.nih.gov]

• Sparse Hair

  Abnormal sparseness of hair (hypotrichosis) is also a primary characteristic of HED, and is due to incomplete formation and reduced numbers of hair follicles. [rarediseases.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]

  Osteoma of Middle Ear OMIM:166400 Osteomas of Mandible OMIM:166450 Osteomesopyknosis OMIM:612852 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis; OMIM:300373 Osteopathia Striata with Cranial Sclerosis; OSCS OMIM:259690 Osteopenia and Sparse [informatics.jax.org]

  /Tooth Type, Autosomal Dominant ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS Ectodermal Dysplasia 4, Hair/Nail Type Ectodermal [rgd.mcw.edu]

• Short Nails

  […] dentition with short, rhomboid roots, and short, thin, slow growing nails. [rarediseases.info.nih.gov]

  MalaCards based summary : Odontomicronychial Dysplasia, is also known as ectodermal dysplasia, nail/tooth type. Affiliated tissues include skin, and related phenotypes are premature eruption of permanent teeth and short nail [malacards.org]

• Hyperkeratosis

  Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: A new syndrome? J Am Acad Dermatol 30:893–898. van Steensel MAM, van der Hout AH. 2009. [docksci.com]

  […] dysplasia Hereditary pancreatitis Hermansky Pudlak syndrome 2 Hidradenitis suppurativa - Not a rare disease Histiocytosis-lymphadenopathy plus syndrome Hyaline fibromatosis syndrome Hydroa vacciniforme Hydroa vacciniforme, familial Hyper-IgD syndrome Hyperkeratosis [familydiagnosis.com]

  Hidrotic Ectodermal Dysplasia, Autosomal Recessive High-Frequency Hearing Loss Histiocytosis with Joint Contractures and Sensorineural Deafness Hittner Hirsch Kreh Syndrome Holoprosencephaly 10 Homozygous 11p15-p14 Deletion Syndrome Hypertrichosis, Hyperkeratosis [rgd.mcw.edu]

  An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. Alves AF, dos Santos PA, Castelo-Branco-Neto E, Freire-Maia N. [ncbi.nlm.nih.gov]

• Skin Rash

  Distinctive skin changes may also be present. Many affected newborns have unusual scaling or peeling of the skin, while many children develop itchy (pruritic), scaling skin rashes (eczema). [rarediseases.org]

  The rash of German measles is typically pink or light red. The rash causes itching and often lasts for about three days. The rash disappears after a few days with no staining or peeling of the skin. [findzebra.com]

• Seizure

  Syndrome Holoprosencephaly 10 Homozygous 11p15-p14 Deletion Syndrome Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features hypohidrotic ectodermal dysplasia + hypoparathyroidism-deafness-renal disease syndrome Hypotonia, Seizures [rgd.mcw.edu]

  OMIM:300000 Opitz Gbbb Syndrome, Type I; GBBB1 OMIM:145410 Opitz Gbbb Syndrome, Type II; GBBB2 OMIM:305450 Opitz-Kaveggia Syndrome; OKS OMIM:258480 Opsismodysplasia; OPSMD OMIM:616732 Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures [informatics.jax.org]

• Spastic Paralysis

  Keratoderma palmoplantar spastic paralysis 0 *Charcot-Marie-Tooth Disease *Keratoderma, Palmoplantar *Nail Diseases. Leukonychia totalis 0 *Nail Diseases/congenital *Hypopigmentation. [reference.md]

  paralysis Keratoderma palmoplantaris transgrediens Keratolytic winter erythema Keratosis follicularis dwarfism and cerebral atrophy Keratosis follicularis spinulosa decalvans Keratosis palmoplantaris striata 1 Keratosis palmoplantaris striata 3 Keratosis [familydiagnosis.com]

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]

Cleidocranial dysplasia: Part 1-General principles of the orthodontic and surgical treatment modality. Am J Orthod Dentofac Orthop 1997; 111(1): 28-33. Jensen BL, Kreiborg S. Dental treatment strategies in cleidocranial dysplasia. [joralres.com]

Prosthetic treatments for patients with ectodermal dysplasia. J Prosthet Dent. 2001 Oct. 86(4):364-8. [Medline]. Imirzalioglu P, Uckan S, Haydar SG. [emedicine.medscape.com]

10 purchase cheap himcolin on-line erectile dysfunction natural treatment options. [astakask.com]

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 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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.it]

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]

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]