Symptoma

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B

HED

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]

Acronym ECTD10B Synonyms Ectodermal dysplasia anhidrotic Ectodermal dysplasia hypohidrotic autosomal recessive EDA HED Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

The teeth that are present erupt from the gums later than usual and are frequently small and pointed. [ghr.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. 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]

Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. [ncbi.nlm.nih.gov]

  • Pointed Teeth

    Individuals Affected by HED Share a Similar Facial Appearance Thin, dark skin beneath the eye with extra folds or wrinkles, A depressed “saddle” nose, Small narrow jaw, and Small pointed teeth. [nfed.org]

  • Dry Eyes

    Additional Features Can Include Decrease in mucous glands in the throat, voice box, windpipe, nose and tube to the lungs Dry and scaly skin (eczema) Dry eyes, Asthma, Ear wax impaction, Dry nasal concretions, Respiratory illness, Sinusitis, and Sparseness [nfed.org]

  • Thick Lips

    Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. [ghr.nlm.nih.gov]

    lips and oral mucosa) 23 102200 Pituitary adenoma 1, multiple types (PITA1) (Somatotrophinoma, familial isolated, FIS) (Isolated familian somatotropinosa; IFS) (Somatotrophinoma, familial) (Acromegaly due to pituitary adenoma 1) (PAGH1) (Pituitary adenoma [becomerich.lab.u-ryukyu.ac.jp]

  • Epistaxis

    […] known as ectd11b, is related to ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema and ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia, and has symptoms including spontaneous, recurrent epistaxis [malacards.org]

  • Spontaneous Recurrent Epistaxis

    recurrent epistaxis An important gene associated with Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDARADD (EDAR Associated Death Domain). [malacards.org]

  • Irritability

    Peeling skin Intolerance to heat, and may be irritable in warm environments or may have unexplained fevers. More often, diagnosis is not made until the teeth do not erupt at the expected age or the teeth appear to be pointed when they do erupt. [nfed.org]

Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

More on Genetics of Hypohidrotic ectodermal dysplasia » Treatments: Hypohidrotic ectodermal dysplasia Names and Terminology Other Names for This Condition Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome CST syndrome HED References Source [familydiagnosis.com]

In some cases, without appropriate treatment, episodes of hyperpyrexia may result in life-threatening complications; particularly during the first two years of life. [rarediseases.org]

Management and treatment For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia. The documents contained in this web site are presented for information purposes only. [orpha.net]

Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. [orpha.net]

PMID: 19616858 Prognosis Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. [ncbi.nlm.nih.gov]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

Etiology These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor [orpha.net]

Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia [orpha.net]

Relevant External Links for EDAR Genetic Association Database (GAD) EDAR Human Genome Epidemiology (HuGE) Navigator EDAR Atlas of Genetics and Cytogenetics in Oncology and Haematology: EDAR No data available for Genatlas for EDAR Gene Mutations in the [genecards.org]

Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. [rarediseases.info.nih.gov]

Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm, which impairs the normal development of skin, hair, nails, teeth, and sweat glands. [ghr.nlm.nih.gov]