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Tricho-Retino-Dento-Digital Syndrome

Bork Syndrome


Presentation

  • […] that are present when only one copy of the mutation is inherited on a non-sex chromosome.[dovemed.com]
  • […] hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q82.4 OMIM: 191482 UMLS: C1860605 MeSH: - GARD: 5257 938 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Type 3: In Klein-Waardenburg syndrome or pseudo-Waardenburg syndrome, dystopia canthorum is not present, but one-sided ptosis of the upper eyelid and upper limb anomalies are present.[emedicine.medscape.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • The authors suggested that the same gene might be present in the Tennessee family with modification by gene or genes present in one kindred and not in the other.[omim.org]
Juvenile Cataract
  • cataract retinal pigmentary dystrophy Clinical features from OMIM: 191482 Human phenotypes related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly: 59 32 (show all 17) # Description HPO Frequency Orphanet Frequency[malacards.org]
  • cataracts Short hand Extra teeth Note that Tricho-retino-dento-digital syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Tricho-retino-dento-digital syndrome signs may refer to those signs only noticable by a doctor[checkorphan.org]
  • cataract Uncombable hair Frequently present symptoms in 30-79% of the cases: Increased number of teeth Oligodontia Occasionally present symptoms in 5-29% of the cases: Short 5th metacarpal (Source: Bork Stender Schmidt Syndrome; Genetic and Rare Diseases[dovemed.com]
  • Cataracts, and Short Stature Syndrome 1 Retinitis Pigmentosa 5 Retinitis Pigmentosa 1 4 Retinitis Pigmentosa 10 4 Retinitis Pigmentosa 11 4 Retinitis Pigmentosa 12 5 Retinitis Pigmentosa 13 4 Retinitis Pigmentosa 14 4 Retinitis Pigmentosa 15 5 Retinitis[preventiongenetics.com]
Short Finger
  • Symptoms - Tricho retino dento digital syndrome The list of signs and symptoms mentioned in various sources for Tricho-retino-dento-digital syndrome includes the 11 symptoms listed below: Short finger Reduced body hair Mental retardation Woolly hair Metacarpal[checkorphan.org]
Microdontia
  • Classifications: Diseases related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 Head And Neck Teeth: microdontia[malacards.org]
  • The signs and symptoms of Bork Stender Schmidt Syndrome may include: Hypospadias Microdontia Pili canaliculi Rod-cone dystrophy Short metacarpal Short proximal phalanx of finger Short toe Based on the frequency of symptoms observed, the following information[dovemed.com]
  • […] fourth metacarpals Talonavicular coalition Tang Hsi Ryu syndrome Tangier disease TAR syndrome Tarlov cysts TARP syndrome Tarsal carpal coalition syndrome Tarsal tunnel syndrome TAU syndrome Taurodontia absent teeth sparse hair Taurodontism Taurodontism microdontia[personalizedcause.com]
  • […] ear malformations association Congenital absence of heart structure Congenital anomaly of trunk Congenital cataracts, facial dysmorphism and neuropathy Congenital contractural arachnodactyly Congenital deafness with labyrinthine aplasia, microtia and microdontia[icdlist.com]
Retinal Pigmentation
  • pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703 2 short 5th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010047 3 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069 4 hypotrichosis 59 32 hallmark[malacards.org]
  • pigmentation Brachydactyly Hypotrichosis Juvenile cataract Uncombable hair Frequently present symptoms in 30-79% of the cases: Increased number of teeth Oligodontia Occasionally present symptoms in 5-29% of the cases: Short 5th metacarpal (Source: Bork[dovemed.com]
  • Pigment Epithelium 4 Peeling Skin Syndrome, Acral Type 1 Pelger-Huet Anomaly 2 Pelizaeus-Merzbacher Disease 2 Pendred Syndrome 3 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease 4 Periventricular[preventiongenetics.com]
Brachydactyly
  • MalaCards integrated aliases for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly: Name: Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 57 Bork Syndrome 57 59 Uncombable Hair-Retinal[malacards.org]
  • ORPHA:1264 Synonym(s): Bork syndrome Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q82.4 OMIM: 191482 UMLS: C1860605 MeSH: - GARD: 5257 938[orpha.net]
  • […] dystrophy, dental anomaly and brachydactyly syndrome (disorder) Concept Status Published Concept Status Date 09/01/2018 Code System Name SNOMED-CT[phinvads.cdc.gov]
Short Hands
  • […] various sources for Tricho-retino-dento-digital syndrome includes the 11 symptoms listed below: Short finger Reduced body hair Mental retardation Woolly hair Metacarpal anomaly Dental anomaly Missing teeth Retinal pigmentary dystrophy Juvenile cataracts Short[checkorphan.org]
Hand Deformity
  • deformity mandibulofacial dysostosis Split hand split foot malformation autosomal reces Split hand split foot mandibular hypoplasia Split hand split foot nystagmus Split hand split foot X linked Split hand urinary anomalies spina bifida Split-hand deformity[sosu.us]
Hyperactivity
  • Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.[orpha.net]
  • […] characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia Furthermore, hyperactivity[dovemed.com]
  • Basal ganglia calcification (calcium deposits in the basal ganglia) Cerebral white matter abnormalities Dysarthria (a motor speech disorder characterized by poor articulation) Hyperactive deep tendon reflexes Mental retardation (rare) Neurogenic bladder[nfed.org]
  • Aspergillosis Astrocytoma Astrocytoma, Anaplastic Ataxia, Friedreich's Ataxia, Hereditary, Autosomal Dominant Ataxia Telangiectasia Ataxia with Vitamin E Deficiency Atransferrinemia Atrial Septal Defects Atrioventricular Septal Defect Attention Deficit Hyperactivity[arrayit.com]
  • DNAI1 Kartagener syndrome DNAI1 Dilated cardiomyopathy with ataxia syndrome DNAJC19 Systemic lupus erythematosus DNASE1 Centronuclear myopathy DNM2 Charcot-Marie-Tooth disease DNM2 Chromosome instability and immunodeficiency DNMT3B Attention deficit hyperactivity[springer.com]

Workup

Torsades De Pointes
  • de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks syndrome[ipfs.io]
  • de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox [ edit ] Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks[en.wikipedia.org]

Treatment

  • The complications of Bork Stender Schmidt Syndrome may include: Dental abnormalities Emotional stress due to cosmetic concerns Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
  • 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]
  • Disease / Tricho retino dento digital syndrome Disease details Treatment Ask a Question This is a rare disease, no information about it yet.[doctorkepaas.com]
  • Treatment - Tricho retino dento digital syndrome Not supplied. Resources - Tricho retino dento digital syndrome Not supplied.[checkorphan.org]
  • 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]

Prognosis

  • Diagnosis - Tricho retino dento digital syndrome Home medical testing related to Tricho-retino-dento-digital syndrome: Vision & Eye Health: Home Testing: Home Eye Tests Home Vision Tests Prognosis - Tricho retino dento digital syndrome Not supplied.[checkorphan.org]

Etiology

  • (Etiology) The exact cause of development of Bork Stender Schmidt Syndrome is presently unknown It is believed to be a genetic disorder that is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders[dovemed.com]
  • Etiology Treacher Collins syndrome is inherited as an autosomal dominant trait with variable expressivity and high penetrance. A recessive form has also been described.[emedicine.medscape.com]

Epidemiology

  • Dystrophy, Dental Anomalies, and Brachydactyly 57 Bork Syndrome 57 59 Uncombable Hair-Retinal Pigmentary Dystrophy-Dental Anomalies-Brachydactyly Syndrome 59 Tricho-Retino-Dento-Digital Syndrome 59 Bork Stender Schmidt Syndrome 73 Characteristics: Orphanet epidemiological[malacards.org]
  • Molecular Epidemiology of Helicobacter pylori in Brazilian Patients with Betimes Gastric Cancer and... 27 The using software is examination version.[mominthecity.com]
  • Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva. Dermatology 1998;197:69-70. 67.[go.galegroup.com]
  • Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. [ PUBMED ] [Full text] 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva.[ijdvl.com]
Sex distribution
Age distribution

Prevention

  • How can Bork Stender Schmidt Syndrome be Prevented? Currently, Bork Stender Schmidt Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Prevention - Tricho retino dento digital syndrome Not supplied.[checkorphan.org]
  • Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective[findzebra.com]
  • Centers for Disease Control and Prevention Intersex [ Read More ][icdlist.com]
  • Syndromes Bleeding Skin test to check for tuberculosis infection, which may look similar Tonsils Steroids to reduce swelling in the brain Use seat belts and bike helmets to prevent injuries.[nhha.org]

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