In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using highly polymorphic microsatellite markers to identify the gene causing EDSS1. [ncbi.nlm.nih.gov]

Clinical Characteristics Ocular Features: Granular pigmentation and a grayish coloration of the retina may be present. [disorders.eyes.arizona.edu]

Patient 2, who was younger, presented a milder but evolving condition after 2-year follow-up assessment where the syndactyly was not corrected. [200.98.68.239]

We present a case of a 17-year-old with EEC that had familial presentation as the mother of the patient was also affected. The boy had hand function, which was enough for routine work, however, he wanted improvement in his hands to do fine work. [degruyter.com]

In conclusion, the present case is of EEC syndrome which is a rare anomaly and we call for heightened awareness of the possibility of EEC, particularly in pediatric patients presenting with similar clinical picture. [contempclindent.org]

• Heat Intolerance

  Some individuals present early in life with fragile skin or hair, absent or delayed eruption of teeth, and heat intolerance; others may only have mild symptoms or isolated tooth agenesis. [invitae.com]

  The most common symptoms of XLHED are the following: Significant decrease in sweating or hypohidrosis that can lead to heat intolerance, hyperthermia, or unexplained fevers/fevers of unknown origin in infancy that can rarely lead to febrile seizures Tooth [clinicaladvisor.com]

  Hypohidrosis is severe enough to result in heat intolerance. Dental defects include conical teeth and hypodontia. Hair is sparse, has a steel-wool texture, and may show pili torti or pili canaliculi, as shown in the images below. [emedicine.medscape.com]

  Absent or reduced sweating causes heat intolerance and affected individuals may present with unexplained fever in infancy or childhood. Extreme discomfort can follow exertion or eating hot foods. [drmhijazy.com]

• Disability

  General learning disability. Features of ectodermal dysplasia affecting development and growth of skin, hair, nails, teeth and sweat glands. [patient.info]

  KW - Blotting, Western KW - Child KW - Cleft Palate KW - DNA-Binding Proteins KW - Ectodermal Dysplasia KW - Exons KW - Female KW - Genes, Recessive KW - Humans KW - Intellectual Disability KW - Male KW - Mutation KW - Pedigree KW - Phenotype KW - RNA [kclpure.kcl.ac.uk]

  […] natal teeth Turnpenny type Ectodermal dysplasia with sweating defect Ectodermal dysplasia with tooth-nail defects Ectodermal dysplasia with tooth-nail-sweating defect Ectodermal dysplasia with tooth-sweating defect Ectodermal dysplasia, intellectual disability [icdlist.com]

  In general, they have minimal and manageable serious medical problems, normal IQ, and most achieve success and have a long life, irregardless of their disabilities. [encyclopedia.com]

• Widely Spaced Teeth

  Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. [malacards.org]

  We report 2 Yemeni siblings with typical EDSS manifestations, including bilateral, partial cutaneous syndactyly of the fingers and toes; sparse, coarse, brittle scalp hair, eyebrows, and eyelashes; and conical, widely spaced teeth with enamel notches. [ncbi.nlm.nih.gov]

  Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. Sequence similarities Belongs to the nectin family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. [abcam.com]

  Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. {ECO:0000269 PubMed:20691405}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

• Xerostomia

  Decreased secretions can also lead to xerostomia, xerophthalmia, thick nasal secretions, excessive cerumen, hoarse voice, respiratory infections, and dysphagia. [clinicaladvisor.com]

  Saliva [ 23 ] substitutes can be used in cases of severe xerostomia. [ 23 ] The above patient was not extremely concerned about the malformation of his hands or feet. [parjournal.net]

  Other ectodermal anomalies include mild hypohidrosis; coarse, dry hair with hypotrichosis; xerostomia; dystrophic nails; dental enamel hypoplasia; and microdontia. [emedicine.medscape.com]

  Saliva substitutes in case of xerostomia if severe. Restoration of carious primary as well as permanent teeth. Prosthesis whenever required. Surgical closure of cleft lip is indicated at 10 weeks of age. [jisppd.com]

• Selective Tooth Agenesis

  The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. Am J Med Genet A. 2014 Oct. 164A (10):2455-60. [Medline]. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, et al. [emedicine.medscape.com]

• Hand Deformity

  Keywords: Ectodermal dysplasia/genetics; Syndactyly; Alopecia; Retina/abnormalities; Retinal dystrophy; Hand deformities, congenital/genetics; Syndrome RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante [200.98.68.239]

• Sweating

  […] fewer sweat glands than normal or their sweat glands do not function properly. [icdlist.com]

  The first step in the algorithm for making a specific diagnosis of an ED is to determine the presence of sweating (hidrotic) or absence of sweating (hypohidrotic/anhidrotic). [mhmedical.com]

  Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. [ghr.nlm.nih.gov]

  […] an·hi·drot·ic ec·to·der·mal dys·pla·si·a [MIM*305100] a disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth finely wrinkled [medical-dictionary.thefreedictionary.com]

  There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C>T (p.Gln77Ter) in PVRL4. [ncbi.nlm.nih.gov]

• Alopecia

  We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion [ncbi.nlm.nih.gov]

  Case 1: Alopecia and ectrodactyly. Figure 4. [200.98.68.239]

  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]

  […] hypoplasia Spaced teeth Skin Anhidrosis Eroded skin at birth from limited to high percentage of body surface area Hyperkeratosis Hyperpigmentation Palmar and plantar keratoderma Patchy partial deficiency of sweat glands Peeling erythematous Sparse to alopecia [datagenno.com]

• Hyperkeratosis

  There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C>T (p.Gln77Ter) in PVRL4. [ncbi.nlm.nih.gov]

  Mammary Supernumerary nipple Ocular Lacrimal duct atresia Oral Anodontia Cleft lip cleft palate or both Conical teeth Hypodontia Maxillary hypoplasia Spaced teeth Skin Anhidrosis Eroded skin at birth from limited to high percentage of body surface area Hyperkeratosis [datagenno.com]

  The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy [scopemed.org]

  Most patients have hyperkeratosis of the palms. Keywords Hair Loss Adherens Junction Ectodermal Dysplasia Compound Heterozygous Mutation Enamel Hypoplasia These keywords were added by machine and not by the authors. [link.springer.com]

  Bullous Congenital Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bullous Ichthyosiform Erythroderma Epidermolytic Hyperkeratosis Epidermolytic Hyperkeratosis, Late-Onset, Included EHK BCIE BIE EHK 113800 Genetic Test [ukgtn.nhs.uk]

• Dermatitis

  Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

  The development of a chronic eczematous dermatitis is common. Other common signs are short stature, eye abnormalities, decreased tearing, and photophobia. [emedicine.medscape.com]

  Patients may also have inflammatory dermatitis of the scalp. Diagnosis The diagnosis of EEC syndrome can be complex because of the overlap of symptoms with other ectodermal dysplasia syndromes. [encyclopedia.com]

  Lichen planus (Medical Encyclopedia) Milia (Medical Encyclopedia) Sebaceous cyst (Medical Encyclopedia) Seborrheic keratosis (Medical Encyclopedia) Skin lesion removal (Medical Encyclopedia) Skin lesion removal-aftercare (Medical Encyclopedia) Stasis dermatitis [icdlist.com]

  There was no dermatitis of the scalp. The eyebrows were especially sparse in their lateral halves. The patient's skin was significantly thickened and dry, especially on the extremities, with ridged and brittle toe nails. [parjournal.net]

• Hypoplastic Nails

  The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral partial cutaneous syndactyly, hypotrichosis, palmoplantar keratoderma and hyperhidrosis. [ncbi.nlm.nih.gov]

  Affiliated tissues include skin, and related phenotypes are widely spaced teeth and coarse hair OMIM : 57 Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth [malacards.org]

• Broad Nasal Bridge

  The characteristic facies is due to ankyloblepharon (congenital adhesion of the upper and lower eyelid margins by fibrous bands); a broad nasal bridge; and a sunken, hypoplastic maxilla. Cleft palate is common; cleft lip is rare. [emedicine.medscape.com]

  Short stature, delayed fontanel closure, frontal bossing and a broad nasal bridge. A-N-O-T-H-E-R SYNDROME Clinical Feature The main manifestations of this syndrome are: A lopecia N ail dystrophy O phthalmic complications. [drmhijazy.com]

Treatment Treatment Options: No treatment is available for this disease. [disorders.eyes.arizona.edu]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Ongoing controversies regarding etiology, diagnosis, treatment There are no ongoing controversies, but there is ongoing research regarding a potential disease-modifying treatment for XLHED. [clinicaladvisor.com]

[…] physical therapy, growth hormone treatment, and special education amongst others The prognosis of Cranioectodermal Dysplasia is poor with many newborns and young children succumbing to renal, as well as respiratory failures. [dovemed.com]

Treatment of such patients requires a multidisciplinary approach. [jisppd.com]

[…] history of CED The treatment options for Cranioectodermal Dysplasia include correction of the skeletal abnormalities through surgery, medication for organ dysfunction, physical therapy, growth hormone treatment, and special education amongst others The prognosis [dovemed.com]

[…] deletions, inversions, translocations of 7q split hand-split foot syndrome affected families should undergo genetic counseling Associated conditions Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome sensorineural hearing loss syndactyly and polydactyly Prognosis [orthobullets.com]

Prognosis The prognosis for most individuals with EEC syndrome is very good. Life expectancy ranges from slightly reduced to normal. The most life-threatening complications come from sweating problems. [encyclopedia.com]

Prognosis This syndrome is rare and has only recently been delineated, so it is difficult to find any reliable information on long-term outlook. Patients who are adequately managed seem to do well in the medium term. [patient.info]

Prognosis of ACFS is poor. [ojrd.biomedcentral.com]

Ongoing controversies regarding etiology, diagnosis, treatment There are no ongoing controversies, but there is ongoing research regarding a potential disease-modifying treatment for XLHED. [clinicaladvisor.com]

(Etiology) In 40% of the individuals with Cranioectodermal Dysplasia, the disorder is caused by mutation(s) in any of the following 4 genes: WDR35, WDR19, IFT122, and IFT43 Each of the causative genes codes for a protein that forms a subunit of a complex [dovemed.com]

Etiology The genetic mechanism underlying ACFS is still unknown. Isolated or syndromic SHFM has been linked to different loci or genes. [ojrd.biomedcentral.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.com]

[…] more central digits of the hand or foot also known as lobster-claw deformity Swanson type I failure of formation (longitudinal arrest) of central ray, leaving V-shaped cleft in the center of the hand types unilateral vs bilateral isolated vs syndromic Epidemiology [orthobullets.com]

The gene locus for AEC syndrome and Hay-Wells syndrome is on the long arm of chromosome 3. [ 5 ] Epidemiology These are exceedingly rare conditions with only a handful of reported cases. [patient.info]

Epidemiology The incidence of ACFS has not been determined, due to the paucity of the reported cases, but it is likely a very rare disease (< 1 in 100,000 newborns). A similar occurrence among genders is expected for an autosomal disorder. [ojrd.biomedcentral.com]

Epidemiology: XLHED has an estimated incidence of 1/10,000. It is a genetically inherited disease. [clinicaladvisor.com]

Pathophysiology: Mutations in the causative gene are responsible for the manifestations of the disorder. Mutations in the ectodysplasin signaling pathway are seen in those affected with XLHED. [clinicaladvisor.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

Currently, there are no specific methods or guidelines to prevent Cranioectodermal Dysplasia, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]

At this time, the disease cannot be prevented in individuals with a disease-causing mutation. What is the evidence? Bluschke, G, Nusken, KD, Schneider, H. [clinicaladvisor.com]

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome" 1 Department of Pediatric and Preventive Dentistry, P.M.N.M. [contempclindent.org]

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]