Symptoma

Ectodermal Dysplasia with Natal Teeth Type Turnpenny

[…] hyperostosis 0004437 Ectodermal dysplasia 0000968 Hypodontia Failure of development of between one and six teeth 0000668 Hypoplastic pilosebaceous units 0007515 Hypoplastic sweat glands Underdeveloped sweat glands 0007387 Natal tooth Born with teeth Teeth present [rarediseases.info.nih.gov]

Neurological development was de-layed, and he has never gone to school, but worked inagricultural activities.At physical evaluation he presented normal height,weight, and occipitalfrontal circumference. [documents.tips]

This review presents a summary of known genes and new candidates, their possible role and the current state of knowledge in genetics of hereditary hearing impairment, all of them possibly expected to allow for new concepts in therapy. [ingentaconnect.com]

Their family is similar to ours, but differs in that natal teeth were present in some, and acanthosis nigricans was a variable feature. [doczz.net]

Ptosis and lax skin had been present since childhood. McGaughran (2003) stated that this was the oldest person that had been described with CFC syndrome. [genome.jp]

  • Short Stature

    Affiliated tissues include skin, and related phenotypes are short stature and abnormality of the nail [malacards.org]

    stature Decreased body height Small stature [ more ] 0004322 Slow-growing scalp hair 0100038 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp [rarediseases.info.nih.gov]

    stature Mild short stature Natal tooth Proportionate short stature Synostosis of carpal bones Hypoplastic left heart Aplasia/Hypoplasia of the lungs Dextrocardia Emphysema Cubitus valgus Short finger Abnormality of pelvic girdle bone morphology Renal [mendelian.co]

    stature IEA IEA Mild 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0001597 Abnormality of the nail IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004437 Cranial hyperostosis IEA [sourceforge.net]

    stature-skin anomalies syndrome Taurodontia-absent teeth-sparse hair syndrome Teebi-Shaltout syndrome Toriello-Lacassie-Droste syndrome Tricho-dento-osseous syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental [se-atlas.de]

  • Physician

    In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

  • Macrocephaly

    0000668 Hypoplastic pilosebaceous units 0007515 Hypoplastic sweat glands Underdeveloped sweat glands 0007387 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Oligodontia Failure of development of more than six teeth 0000677 Relative macrocephaly [rarediseases.info.nih.gov]

    0001597 Abnormality of the nail IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004437 Cranial hyperostosis IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0004482 Relative macrocephaly [sourceforge.net]

    The first of their patients had the habitus of Noonan syndrome associated with keratosis plantaris and nystagmus; the second had a somewhat Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. [genome.jp]

  • Decrease in Height

    […] body height Small stature [ more ] 0004322 Slow-growing scalp hair 0100038 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning [rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    Top matches: Medium match ELLIS-VAN CREVELD SYNDROME; EVC Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. [mendelian.co]

  • Sparse Eyebrows

    eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Showing of 16 Last updated: 12/1/2018 If you need [rarediseases.info.nih.gov]

    eyebrow IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000668 Hypodontia IEA IEA 17.02.2009 MIM:601345 [sourceforge.net]

    […] described a family with features of Witkop's syndrome with, in addition, sparse eyebrows and lashes and mild palmoplantar keratosis. Thus it may be that abnormalities of eyebrows and lashes are variable features in this syndrome. [doczz.net]

    Note relatively preserved scalp hair, lateral sparse eyebrows, absent inferior eyelashes,hyperpigmented on the dorsum of the nose (acanthosis nigricans), and lip fissures.Fig. 2. [documents.tips]

    eyebrow Sparse and thin eyebrow Small nail Carious teeth Carcinoma Nevus Posterior fossa cyst Tubulointerstitial nephritis Scaphocephaly Trigonocephaly Skin ulcer Nephritis Cerebellar vermis hypoplasia Hematuria Proteinuria Prominent forehead Downslanted [mendelian.co]

  • Sweating

    […] glands Underdeveloped sweat glands 0007387 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Oligodontia Failure of development of more than six teeth 0000677 Relative macrocephaly Relatively large head 0004482 Short stature Decreased [rarediseases.info.nih.gov]

    Her skin involvement of ectodermally derived glands was dry, but she did not give a history of heat (that is, sweating was normal) and the hair, intolerance or problems associated with lack of although fine, was normal in distribution. He sweating. [doczz.net]

    Relative macrocephaly IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0002209 Sparse scalp hair PCS PCS MIM:601345 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0007387 Hypoplastic sweat [sourceforge.net]

    Sweating is also diminished,although heat tolerance is referred as normal.Complementary studies included screening for inbornerrors of metabolism (normal), amino acid chromato-graphy on plasma (normal), T4, thyroid-stimulatinghormone, testosterone, and [documents.tips]

    Oligodontia, sparse hair and deficiency of eccrine sweat glands are the features characteristic for the phenotype of the patients with anhidrotic ectodermal dysplasia ( EDA ) [22]. [wikigenes.org]

  • Alopecia

    Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: ADULT syndrome AREDYLD syndrome Acrofacial dysostosis, Weyers type Alopecia-contractures-dwarfism-intellectual disability [se-atlas.de]

    In most cases the condition corrects itself, but it can also spread to the entire scalp (alopecia totalis) or to the entire body (alopecia universalis). [tihaf.wordpress.com]

    […] universalis Cheilitis Omphalocele Recurrent corneal erosions Bifid scrotum Follicular hyperkeratosis Uveitis Oligodactyly Parakeratosis Hypoplastic fingernail Alopecia of scalp Ectrodactyly Aganglionic megacolon Corneal erosion Absent eyebrow Hemangioma [mendelian.co]

    Total alopecia has not been described. In the cases reported by Giansanti et all" the hair was brittle but this has not been a feature in other reports. [doczz.net]

    She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohidrotic skin, and characteristic facial traits. [genome.jp]

  • Sparse Hair

    Sparse hair Chromosome 1q duplication syndrome. sparse hair Chromosome 2, monosomy 2q37. sparse hair Chromosome 22, trisomy. sparse hair Chromosome Xp11.23-p11.22 Duplication syndrome. [tihaf.wordpress.com]

    hair-short stature-skin anomalies syndrome Taurodontia-absent teeth-sparse hair syndrome Teebi-Shaltout syndrome Toriello-Lacassie-Droste syndrome Tricho-dento-osseous syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental [se-atlas.de]

    They also suggested that the Noonan-like short stature syndrome with sparse hair described by Baraitser and Patton (1986) is the same disorder. [genome.jp]

    Oligodontia, sparse hair and deficiency of eccrine sweat glands are the features characteristic for the phenotype of the patients with anhidrotic ectodermal dysplasia ( EDA ) [22]. [wikigenes.org]

    hair Uncommon - Between 30% and 50% cases Growth delay Uncommon - Between 30% and 50% cases Pica Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Intrauterine growth [mendelian.co]

  • Sparse Eyelashes

    eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Showing of 16 Last updated: 12/1/2018 If you need medical advice, you [rarediseases.info.nih.gov]

    eyelashes IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000668 Hypodontia IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000677 Oligodontia IEA IEA 17.02.2009 MIM:601345 [sourceforge.net]

    eyelashes Choanal atresia Global developmental delay Photophobia Inguinal hernia Palmoplantar keratoderma Respiratory distress Specific learning disability Dry skin Respiratory tract infection Talipes equinovarus Hypodontia Hernia Scarring Abnormality [mendelian.co]

    eyelashes and eyebrows'0 and the second family we report here has virtual absence of the outer one third of the eyebrows (fig 7). [doczz.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

You need to carry on treatment to maintain the effect. [tihaf.wordpress.com]

[…] of Genetic Disease Pharmacogenetics Drug Metabolism Genetic Variations Revealed by the Effects of Drugs Personalized Medicine Treatment of Genetic Disease Therapeutic Applications of Recombinant DNA Technology Gene Therapy RNA Modification Targeted Gene [heimkaup.is]

Chemical compound and disease context of ODT1 This article reports the successful treatment of a patient, aged 15 years 8 months, with a Class III malocclusion and oligodontia ; a titanium screw was used for absolute anchorage during treatment [10]. [wikigenes.org]

Treatment of CFC-zebrafish embryos with inhibitors of the FGF-MAPK pathway could restore normal early development. [genome.jp]

Gametogenesis Chromosome Abnormalities Further Reading Chapter 4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes Position-Independent Identification of Human Disease Genes Positional Cloning The Human Genome Project Identifying the Genetic Etiology [heimkaup.is]