A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. [ncbi.nlm.nih.gov]

Perelman Department of Dermatology, New York University Abstract A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. [escholarship.org]

Additionally, the teeth of the individuals affected with Rapp-Hodgkin Syndrome may be absent or malformed Rapp-Hodgkin Syndrome is a congenital condition, meaning that it is present at birth. [dovemed.com]

• Short Stature

  The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. [insights.ovid.com]

  Renal hypoplasia/aplasia Short long bone Abnormality of the fingernails Short ribs Situs inversus totalis Heterotopia Abnormality of the nail Dandy-Walker malformation Proportionate short stature Mild short stature Limb undergrowth Abnormality of bone [mendelian.co]

  stature Hearing Deafness Ocular Absent lacrimal puncta Ptosis Show images https://www.datagenno.com/utils/files/images/1238/normal Oral Cleft lip with or without cleft palate Cleft palate Show images https://www.datagenno.com/utils/files/images/1018/ [datagenno.com]

  Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae [xpertdox.com]

• Fissured Tongue

  The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [ncbi.nlm.nih.gov]

• Hearing Impairment

  impairment Hearing impairment Microdontia Short stature Wide nasal bridge Hypospadias Sparse hair Ankyloblepharon Nail dystrophy Abnormality of dental enamel Sparse eyelashes Underdeveloped nasal alae Tics Pili torti Anal atresia Finger syndactyly Oral [mendelian.co]

  Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth [malacards.org]

  Signs and symptoms : Common features of this syndrome include brittle, sparse and dry hair with alopecia in adulthood, hypohidrosis (a reduced ability to sweat due to decrease in the number of sweat glands), heat intolerance, dental anomalies, hearing [xpertdox.com]

  Some individuals with ectodermal dysplasia, particularly those with EEC syndrome, may have hearing impairment. Structural birth defects may occur in some ectodermal dysplasias. [encyclopedia.com]

• Cup-Shaped Ears

  The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. [ncbi.nlm.nih.gov]

• Ear Discharge

  Bilateral ear discharge at 3 and 6 years old. No other family member is affected. [ashg.org]

• Alopecia

  The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. [ncbi.nlm.nih.gov]

  Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K. [ijdvl.com]

  The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [hypodontia.com]

  We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. [karger.com]

• Sparse Fine Hair

  fine hair Thin with decreased number of sweat pores [datagenno.com]

  The congenital erythroderma in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair (hypotrichosis) Can be brittle, coarse or wiry with [nfed.org]

  Hair changes are more obvious with age. Hair is typically light-colored and fine. Eyebrows and eyelashes are sparse. Nail dysplasia is commonly reported. Dental anomalies. [ncbi.nlm.nih.gov]

• Dry, Brittle Hair

  The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [ncbi.nlm.nih.gov]

• Thin Skin

  Symptoms - Rapp-Hodgkin syndrome * Thin skin * Reduced number of sweat pores * Sparse hair * Fine hair * Pili canaliculi * Small nails * Missing teeth * Small teeth * Conical teeth * Low nasal bridge * Narrow nose * Hypoplastic nostrils * Maxillary hypoplasia [checkorphan.org]

  Abnormal oral mucosa morphology Agenesis of corpus callosum Agenesis of permanent teeth Hypothyroidism Depressed nasal ridge Intrauterine growth retardation Taurodontia Abnormal hair quantity Aplasia/Hypoplasia of the eyebrow Hydroureter Thin skin Ptosis [mendelian.co]

• Follicular Plugging

  Histopathological examination of skin revealed hyperkeratosis, acanthosis, follicular plugging, increased pigmentation of basal layer, pigmentary incontinence, perivascular inflammatory infiltrate, and decreased pilosebaceous follicles [Figure 2]a and [idoj.in]

  Histopathology of skin must be done and is expected to reveal evidence of hyperkeratosis, acanthosis, follicular plugging, superficial perivascular infiltrate, increased pigmentation of basal layer, and decreased pilosebaceous follicles. [xpertdox.com]

• Narrow Nose

  nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. [unboundmedicine.com]

  Clinical features include a characteristic facies, i.e. midfacial hypoplasia, narrow nose and microstomia, variable ectodermal defects and cleft lip or palate. It was first described by Rapp and Hodgkin in 1968. [geneskin.org]

  Rapp-Hodgkin syndrome An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; [medical-dictionary.thefreedictionary.com]

  Abstract An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. [q9.placate.us]

• Mid-Face Hypoplasia

  Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [ncbi.nlm.nih.gov]

  Results Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid‐face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [doi.org]

• Febrile Seizures

  Complications of Rapp-Hodgkin Syndrome may include: Hyperthermia (elevated body temperature) due to an inability to sweat in hot weather that can lead to life-threatening situations High fever can lead to convulsions (febrile seizures) Hearing loss Hypospadias [dovemed.com]

CLINICAL Section 3 of 11 Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography History: Individuals affected by EDS have abnormalities in different structures. [doctors.co.il]

The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation. [ncbi.nlm.nih.gov]

The focus of our treatment was to restore the function and esthetics. However, this should not underestimate the importance of prevention. Age and psychological aspect governed our treatment. [jisppd.com]

Dental treatment is extremely important for these individuals as many require successive dentures as a child with addition of dental implants and bridges later in adult life. [geneskin.org]

Prognosis - Rapp-Hodgkin syndrome Not supplied. [checkorphan.org]

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]

MAJOR MINOR  ED  Ectodactyly  Cleft Palate/Lip  Lacrimal duct abnor.  Renal Anomolies  Deafness  MR  Choanal atresis X – Ray of deformed hand show absence or hypoplasia of Meta carpals & Metatarsals 69.  Prognosis :  Corneal Scarring & Blindness [de.slideshare.net]

(Etiology) Rapp-Hodgkin Syndrome is a genetic disorder that is caused by mutations in the TP63 gene The condition is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when [dovemed.com]

Rapp-Hodgkin syndrome: clinical and dental findings. 61 Tosun G...Elbay U 19953814 2009 45 Hay-Wells syndrome in a child with mutation in the TP73L gene. 61 Garcia Bartels N...Blume-Peytavi U 17910675 2007 46 AEC syndrome: further evidence of a common genetic etiology [malacards.org]

Description All ectodermal dysplasias have a genetic etiology and involve abnormal development and growth of tissues derived from the ectoderm. [encyclopedia.com]

The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance. Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K. [ijdvl.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

SNPs for DLX6 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX6 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for DLX6 Genetic Association Database (GAD) DLX6 Human Genome Epidemiology [genecards.org]

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]

The parent would be asked to complete the data collection form and post it back to the Nutritional Epidemiology Group at the University of Leeds in the freepost envelope. [ncbi.nlm.nih.gov]

Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]

The following are the 3 most commonly recognized entities: EEC (ectodermal dysplasia, ectrodactyly, cleft lip/palate) syndrome Rapp-Hodgkin syndrome Hay-Wells or AEC (ankyloblepharon, ectodermal dysplasia, cleft lip/palate) syndrome Pathophysiology: ED [doctors.co.il]

 In 2003, Lamartine reclassified ED into the following 4 functional groups based on the underlying pathophysiologic defect:  (1) cell-to-cell communication and signaling  (2) adhesion  (3) development  (4) other 27.  The most common ectodermal [de.slideshare.net]

[…] maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency * Fetal alcohol syndrome * Treacher Collins syndrome Prevention [checkorphan.org]

Topical management of the recurring external otitis slows the process but has been unsuccessful in preventing restenosis of both external auditory canals. [ncbi.nlm.nih.gov]

PREVENTION General: Because Rapp-Hodgkin syndrome (RHS) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of RHS. [health24.com]