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Piebald Trait - Neurologic Defects Syndrome

Telfer-Sugar-Jaeger Syndrome


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The disease was present in 16 members of the family. Keywords: Piebaldism, White forelock, Autosomal dominant disorder How to cite this article: Maru S, Mittal A, Masuria B. A piebald family.[ijdvl.com]
  • Intertriginous freckling of the axillary and inguinal regions may occasionally be present in infancy, but most often present between 2–10 years of age ( Fig. 29.2B ).[clinicalgate.com]
  • Thus, it is dicult to say geno-type-phenotype correlation from these ndings.There are more than 40 genes in the 3.5-Mb deletionof the presenting patient (Build 2006). As some of theseFig. 2.[docslide.fr]
  • On rare occasions a duplication, not deletion, of chromosome 15q11 13 can present with features of AS, especially if autistic-like features are present [Clayton- Smith and Pembrey, 1992].[docplayer.net]
Disability
  • […] syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability[rarediseases.info.nih.gov]
  • Diseases related with Intellectual disability and Hypopigmentation of the skin In the following list you will find some of the most common rare diseases related to Intellectual disability and Hypopigmentation of the skin that can help you solving undiagnosed[mendelian.co]
  • […] syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Angora hair nevus Annular epidermolytic ichthyosis Atrichia with papular lesions Autoimmune bullous skin disease Autoinflammatory[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]
  • Nevertheless, physicians evaluating children with severe speech delay, happy affect, epilepsy, and movement disorders were able to recognize increasing numbers of affected children.[docplayer.net]
  • Am Fam Physician. 2: 109-116. Agarwal S, Ojha A (2012) Piebaldism A brief report and review of the literature. Indian Dermatol Online J 3: 144-147. Nicolaidou E, Katsambas AD (2014) Pigmentation disorders: hyperpigmentation and hypopigmentation.[omicsonline.org]
Malnutrition
  • […] deficiency Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein-energy malnutrition[ssf.f15ijp.com]
  • Prolymphocytic leukemia * Properdin deficiency * Prosencephaly cerebellar dysgenesis * Prostaglandin antenatal infection * Prostate cancer, familial * Prostatic malacoplakia associated with prostatic abscess * Prostatitis * Protein C deficiency * Protein-energy malnutrition[en.academic.ru]
Loss of Hair
  • Showing of 18 80%-99% of people have these symptoms Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Hypopigmentation of hair Loss[rarediseases.info.nih.gov]
Pallor
  • Anemia onset in newborn period but tends to improve with age pallor and lethargy 2. Musculoskeletal Manifestations short stature triphalangeal thumbs with mild radial hypoplasia narrow shoulders late closure of fontanelles 3.[geometry.net]
Aspiration
  • Stranger rated it it was amazing " All arts aspire to the condition of Music". Now, it's scientifically proven.( Not that it needed to.) I really tried to perservere with this book, but after 100 pages I had to put it down.[goodreads.com]
Macrostomia
  • (PCTT) Trypsinogen deficiency PTCH1 del Basal cell carcinoma, somatic (BCC) Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome) Holoprosencephaly-7 (HPE7) Medulloblastoma, somatic (MDB) PTCH2 Basal cell carcinoma, somatic (BCC) Macrostomia[uniklinik-freiburg.de]
Heterochromia Iridis
  • More on Poikiloderma » Heterochromia iridis : Summary : Heterochromia iridis is a condition characterized by abnormalities of the iris (the colored part of the eye). In people affected by complete heterochromia, the iris of one eye is 4 ... ...[familydiagnosis.com]
  • iridis Different colored eyes 0001100 Neoplasm of the skin Skin tumors Tumor of the skin [ more ] 0008069 Percent of people who have these symptoms is not available through HPO Absent pigmentation of the ventral chest 0007542 Autosomal dominant inheritance[rarediseases.info.nih.gov]
  • iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100 12 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251 13 neoplasm of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008069 14 abnormal eyelash morphology 33[malacards.org]
  • Type I Waardenburg syndrome ( WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural[mendelian.co]
Piebaldism
  • Piebald Trait Neurologic Defects Piebald Trait Neurologic Defects Telfer-Sugar-Jaeger Syndrome (Piebald Trait Neurologic Defects) “Telfer Sugar Jaeger Syndrome (Piebald Trait Neurologic Defects)” Telfer Sugar Jaeger Syndrome In our body, the dis-order[wellnessadvocate.com]
  • Sugar Jaeger syndrome • • • Back to: « Piebald trait-neurologic defects syndrome Disease Articles Cutaneous photosensitivity : Summary : An increased sensitivity of the skin to light.[familydiagnosis.com]
  • Title Other Names: Piebald trait neurologic defects; White forelock and leukoderma with neurological impairment Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.[rarediseases.info.nih.gov]
  • Piebaldism patients have almost no systemic complications. Woolf syndrome is piebaldism associated with deafness, but whether this is true piebaldism or some other disease is un-clear. Piebaldism with lifelong severe constipation has been reported.[clinicaladvisor.com]
Hyperpigmentation
  • More on Cutaneous photosensitivity » Poikiloderma : Summary : Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation , (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. 2 , 3 ... ...[familydiagnosis.com]
  • 79% of people have these symptoms Abnormal eyebrow morphology Abnormality of the eyebrow 0000534 Ataxia 0001251 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Irregular hyperpigmentation[rarediseases.info.nih.gov]
  • Top matches: Low match HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes[mendelian.co]
  • […] syndrome Hyperpigmentation of the skin Hypertrichosis Hypertrichosis cubiti Hypertrichosis lanuginosa congenita Hypertrichosis-acromegaloid facial appearance syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability[se-atlas.de]
Photosensitivity
  • Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by 1 ... ...[familydiagnosis.com]
  • Showing of 18 80%-99% of people have these symptoms Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Hypopigmentation of hair Loss[rarediseases.info.nih.gov]
  • 19) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053 2 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599 3 cutaneous photosensitivity[malacards.org]
  • Gingival fibromatosis-hypertrichosis syndrome Gorlin syndrome Graham Little-Piccardi-Lassueur syndrome Granulomatous slack skin Griscelli disease Griscelli disease type 1 Griscelli disease type 2 Griscelli disease type 3 H syndrome Hair anomaly Hair defect-photosensitivity-intellectual[se-atlas.de]
Alopecia
  • Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Angora hair[se-atlas.de]
  • Polycystic kidney disease, type 2 Polycystic kidney disease, type 3 Polycystic kidney disease Polycystic ovarian disease, familial Polycystic ovarian syndrome Polycystic ovaries urethral sphincter dysfunction Polycythemia vera Polyd-Polyo Polydactyly alopecia[ssf.f15ijp.com]
  • * Polymyositis * Polyneuritis * Polyneuropathy hand defect * Polyneuropathy mental retardation acromicria prema * Polyomavirus Infections * Polyostotic fibrous dysplasia Polyp-Polys * Polyposis, hamartomatous intestinal * Polyposis skin pigmentation alopecia[en.academic.ru]
  • Macule Freckling Iris hypopigmentation Generalized bronze hyperpigmentation Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Anemia Neoplasm Long philtrum Neoplasm of the skin Hyperlipidemia Abnormality of the ear Alopecia[mendelian.co]
Eruptions
  • […] hyperpigmentation Familial tumoral calcinosis Follicular atrophoderma-basal cell carcinoma Frontal fibrosing alopecia Frontonasal dysplasia with alopecia and genital anomaly Gardner syndrome Generalized basaloid follicular hamartoma syndrome Generalized eruptive[se-atlas.de]
  • 5/5Bossing 5/5Midface hypoplasia 3/5Eyes Broad eyebrows 4/5Epicanthic folds 3/5Hypertelorism 3/5Nose Broad (nose root, tip, or philtrum) 5/5Anteverted nares 5/5Ears Malformed and/or malposition 5/5Mouth Dental anomalies (abnormal shapes and delayed eruption[docslide.fr]
  • […] pregnancy Leukocyte adhesion deficiency Neurofibromatosis Distal arthrogryposis type 1 Pruritic urticarial papules Philadelphia-negative chronic CDG syndrome plaques of pregnancy Leukodystrophy myeloid leukemia Arthrogryposis distal type 1 Polymorphic eruption[yumpu.com]
  • […] with macrocephaly and ventriculomegaly association PTH1R ( PTHR) Chondrodysplasia, Blomstrand type (BOCD) Eiken syndrome (Bone modeling defect of hands and feet) Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis) Failure of tooth eruption[uniklinik-freiburg.de]
Hearing Impairment
  • impairment Deafness Hearing defect [ more ] 0000365 White forelock White part of hair above forehead 0002211 Showing of 18 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience[rarediseases.info.nih.gov]
  • impairment 33 HP:0000365 16 abnormality of the eyelashes 60 Occasional (29-5%) 17 abnormality of the eyebrow 60 Frequent (79-30%) 18 white forelock 33 HP:0002211 19 absent pigmentation of the ventral chest 33 HP:0007542[malacards.org]
  • impairment Hypopigmentation of hair Hypopigmented skin patches Hypertonia Gait disturbance White hair Abnormality of the eye Hyperreflexia Rare Symptoms - Less than 30% cases Gait ataxia Partial albinism Sensorineural hearing impairment Silver-gray hair[mendelian.co]
  • The patient had suffered since infancy from pro- found hearing impairment, and did not learn to speak.[dokument.tips]
Hearing Impairment
  • impairment Deafness Hearing defect [ more ] 0000365 White forelock White part of hair above forehead 0002211 Showing of 18 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience[rarediseases.info.nih.gov]
  • impairment 33 HP:0000365 16 abnormality of the eyelashes 60 Occasional (29-5%) 17 abnormality of the eyebrow 60 Frequent (79-30%) 18 white forelock 33 HP:0002211 19 absent pigmentation of the ventral chest 33 HP:0007542[malacards.org]
  • impairment Hypopigmentation of hair Hypopigmented skin patches Hypertonia Gait disturbance White hair Abnormality of the eye Hyperreflexia Rare Symptoms - Less than 30% cases Gait ataxia Partial albinism Sensorineural hearing impairment Silver-gray hair[mendelian.co]
  • The patient had suffered since infancy from pro- found hearing impairment, and did not learn to speak.[dokument.tips]
Narrow Face
  • face Flexion contracture Spastic gait Nevus Sensory impairment Hypoganglionosis Febrile seizures Retrognathia Abnormality of the genital system Kyphoscoliosis Waddling gait Abnormality of the nervous system Hip dislocation Spastic paraplegia Lower limb[mendelian.co]
Ataxia
  • The underlying cause of ataxia is often a ... ...[familydiagnosis.com]
  • Disease definition Piebald trait -neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia[rarediseases.info.nih.gov]
  • Diseases related with Ataxia and Hypopigmentation of the skin In the following list you will find some of the most common rare diseases related to Ataxia and Hypopigmentation of the skin that can help you solving undiagnosed cases.[mendelian.co]
  • Wilson Cavanagh congenital heart malformation and Carvajal syndrome syndrome Muscular dystrophy pelvofemoral clubfoot Peroneal muscular atrophy Ataxia hearing loss and mental type 1b Isolated growth hormone DCWHK Epidermolytic palmoplantar retardation[yumpu.com]
  • Disease definition Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia[orpha.net]
Cerebellar Ataxia
  • ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss.[rarediseases.info.nih.gov]
  • In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312.[mendelian.co]
  • ataxia (subtype) Cardiomelic syndrome Stratton Lacrimoauriculodentodigital Pierre robin sequence congenital Type 1A Charcot-Marie-Tooth Koehler type Ceruloplasmin deficiency syndrome heart defect talipes disease Familial apple peel jejunal Pierre Robin[yumpu.com]
Seizure
  • Epilepsy in infancy, in association with mental retardation, can mimic the seizures and developmental delay of AS.[docplayer.net]
  • HARTNUP DISORDER; HND Is also known as hartnup disease;aminoaciduria, hartnup type; hartnup disorder Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: SCTID MONDO OMIM[mendelian.co]
  • Extracutaneous findings Seizures occur in more than 60–80% of patients with TSC. 39 Conversely 4–50% of infants with infantile spasms have TSC. 39, 40 TSC patients with early onset of seizures ( 41 They are rarely symptomatic and typically regress spontaneously[clinicalgate.com]
  • Immunotherapy- sensitive seizure-like episodes with potassium neck antibodies. Porgador A et al (1996) Induction of antitu- mor immunity using bone marrow-generated dendritic cells.[nhha.org]
Vertigo
  • Symptoms may include clumsy movements, gait disorders, staggering (balance difficulty), vertigo, or speech difficulty. The underlying cause of ataxia is often a ... ...[familydiagnosis.com]
  • […] white forelock type 1E Usher syndrome familial benign Cop per T-cell large granular lymphocyte Pigmentary disorder with hearing Cardioskeletal myopathy-neutropenia deficiency Familial benign recurrent leukemia loss USH1E cardiovascular calcification vertigo[yumpu.com]
Clumsiness
  • Symptoms may include clumsy movements, gait disorders, staggering (balance difficulty), vertigo, or speech difficulty. The underlying cause of ataxia is often a ... ...[familydiagnosis.com]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • 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]
  • What is the treatment for piebaldism? Piebaldism is a benign disorder. However, patients with the condition are at risk of sunburn and other disorders caused by overexposure to the sun.[dermnetnz.org]
  • 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]
  • Indian Dermatol Online J 2 Vitiligo: Pathogenesis, clinical variants and treatment approaches Giannicola Iannella,Antonio Greco,Dario Didona,Biagio Didona,Guido Granata,Alessandra Manno,Benedetta Pasquariello,Giuseppe Magliulo Autoimmunity Reviews. 2015[idoj.in]

Prognosis

  • […] syndrome from other overgrowth syndromes, many of which share asymmetric hypertrophy as a feature but almost always to a less severe degree. 52 Proteus stands apart by having fairly rapid postnatal progression, relentless deforming overgrowth and a poor prognosis[clinicalgate.com]

Etiology

  • The similarity to congenital rubella suggests intrauterine injury at the time of development of the involved systems, but a common etiologic agent has not been identified.[geometry.net]
  • Etiology and pathogenesis The cause of Proteus syndrome is a de novo post-zygotic activating mutation in the AKT1 oncogene.[clinicalgate.com]
  • Because of the complexities of it is out of the question to identify the specific etiology, the mixed DSD grouping (give some thought to later) provides a basis appropriate for finding making.[nhha.org]
  • Children with cerebral palsy have considerable etiologic heterogeneity [Bass, 1999]. Sometimes, however, the correct diagnosis of AS is often made in a child previously considered having nonspeci c cerebral palsy.[docplayer.net]

Epidemiology

  • Relevant External Links for SNAI2 Genetic Association Database (GAD) SNAI2 Human Genome Epidemiology (HuGE) Navigator SNAI2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SNAI2 No data available for Genatlas for SNAI2 Gene Slug regulates[genecards.org]
  • EPIDEMIOLOGY: incidence: rare age of onset: newborn (anemia) risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1.[geometry.net]
  • Epidemiology of Helicobacter pylori infection: where are we in 1995? Crystal make-up of the RAR-gamma ligand-binding realm bound to all-trans retinoic acid.[mominthecity.com]
Sex distribution
Age distribution

Pathophysiology

  • Hirschprung’s Disease or Congenital Aganglionic Megacolon is a Bowel Pathophysiology of Hirschsprung Disease Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient Variants of Hirschsprung Disease Waardenburg syndrome, Hirschsprung[documentslide.com]
  • Pathophysiology: The association of seemingly disparate skeletal and hematologic abnormalities has been proposed to be related to the simultaneous development of the heart, radii, and megakaryocytes at 6-8 weeks’ gestation.[geometry.net]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • This condition is prevented by avoiding suntanning and sunburning and has been treated with topical tretinoin and chemical peels.[medical-dictionary.thefreedictionary.com]
  • Prevention of cataracts, an eye condition. Diabetes, types 1 and 2. How does Niacin And Niacinamide (vitamin B3) work? Methoxsalen Mometasone Bicalutamide Liponexol 10 of 10 - Review by N. Gembak Votes: 345 votes Total customer reviews: 345[nhha.org]
  • EDN3 mutations change single nucleotides in the gene, preventing the production of a functional endothelin 3 protein.[omicsonline.org]
  • HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia[uniklinik-freiburg.de]

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