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 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]

Mutat. 32:70-72(2011) Cited for: VARIANTS ECTD10B HIS-89; GLN-358; GLN-396 INS; MET-403; PHE-408 AND GLN-420; Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [web.expasy.org]

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

• Fever of Unknown Origin

  […] of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation. ( 30302989 ) Oguz MM...Senel S 2018 22 Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. ( 30394555 ) Hammersen [malacards.org]

• Failure to Thrive

  […] to thrive Abnormality of the nail Abnormal facial shape Frontal bossing Slow-growing hair ... ... [familydiagnosis.com]

• Abnormal Teeth

  Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. [ghr.nlm.nih.gov]

• Skin Disease

  […] grouped under: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. [rarediseases.info.nih.gov]

• Thick Lips

  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]

  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]

• 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]

• 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]

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]

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]

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]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

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]

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]

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

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]