Clinical description Disease onset usually presents shortly after birth, but may present in infancy, with profound sensorineural deafness, small or absent nails, and short distal phalanges of hands and feet. [findzebra.com]

Deafness was present in all individuals, along with onychodystrophy and abnormal fingers and/or toes. All families but one had developmental delay or intellectual disability and five individuals had epilepsy. [healthyaging.ku.dk]

Seizures, present in most patients with DOORS syndrome, occasionally occur with increasing frequency or severity and can be refractory to antiepileptic medication. [ommbidblog.com]

The patient presented all of the above-mentioned main symptoms: deafness, onychodystrophy, osteodystrophy and mental retardation. Genetic testing screening could not be performed due to a lack of facilities. [e-ijd.org]

The symptoms are mainly congenital and most are present at birth. [fdna.health]

• Disability

  A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. [findzebra.com]

  The Committee will hear from stakeholders working in the area of education for people with disabilities.” [oireachtas.ie]

  KEYWORDS: DOOR syndrome; DOORS syndrome; SMARCB1; TBC1D24; deafness; genotype-phenotype correlation; intellectual disability; phenotype; seizures Publication type, MeSH terms, Substances, Supplementary concepts Publication type Comparative Study MeSH [ncbi.nlm.nih.gov]

  All families but one had developmental delay or intellectual disability and five individuals had epilepsy. We also describe two additional families with DDOD syndrome in whom the same variant was found. [healthyaging.ku.dk]

  By Jana Hainsworth, Eurochild Secretary General A mother from Bulgaria addressed Members of the European Parliament on 10th December to share her experience of the pressure put on parents to abandon children with disabilities into institutions. [openingdoors.eu]

• Nail Abnormality

  The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. [encyclopedia.pub]

  Such abnormalities include misshapen, discoloured, underdeveloped (hypoplastic) and/or rudimentary nails or even absence of nails. [e-ijd.org]

• Turkish

  Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome. Clin Dysmorphol 2018; 27: 1–3. Article Google Scholar Santos M, Reis-Rego A, Coutinho M, Almeida e Sousa C. [link.springer.com]

• Single Transverse Palmar Crease

  transverse palmar crease Tetralogy of Fallot Sloping forehead Cutis marmorata Cupped ear 2-3 toe syndactyly Small face Chromosome breakage Optic nerve coloboma Premature chromatid separation Hypoplasia of the cochlea Respiratory distress Kyphoscoliosis [mendelian.co]

• Heart Disease

  O'hara, Congenital Heart Disease and Urinary Tract Abnormalities in two Siblings with Door Syndrome, Pediatric Pathology, 14, 5, (797), (1994). R. M. Winter, Eronen syndrome identical with DOOR syndrome?, Clinical Genetics, 43, 3, (167-167), (2012). [doi.org]

  Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. Pediatr Pathol 1994; 14: 797–803. Article CAS Google Scholar Rajab A, Riaz A, Paul G, Al-Khusaib S, Chalmers R, Patton MA. [link.springer.com]

  […] hearing loss deafness with goiter, see Pendred syndrome deafness with LAMM, see Congenital deafness with labyrinthine aplasia, microtia, and microdontia deafness, cochlear, plus, see Deafness and myopia syndrome deafness, congenital, and functional heart [herenciageneticayenfermedad.blogspot.com]

  Syndrome|Mental Retardation, Epilepsy, And Endocrine Disorders BFLS MRXSBFL|BORJ 301900 Genetic Test Registry Brugada Syndrome 5 BRGDA5 612838 Genetic Test Registry Cardiac Valvular Dysplasia, X-Linked Myxomatous Valvular Dystrophy, X-Linked Valvular Heart [ukgtn.nhs.uk]

• Absent Nails

  nails, small or absent distal phalanges of hands and feet. [malacards.org]

  Definition A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. [uniprot.org]

  Small or absent nails and hypoplastic terminal phalanges are noted in most individuals. A triphalangeal thumb is present in one third of affected individuals. [ommbidblog.com]

  The rare, autosomal recessive genetic condition is characterised by deafness, onychodystrophy (short or absent nails), osteodystrophy (short fingers and toes), developmental delay and intellectual disability (previously called mental retardation), and [epilepsysociety.org.uk]

  Karen Temple and Michael Baraitser, Severe mental retardation and absent nails of Hallux and Pollex, American Journal of Medical Genetics, 41, 2, (173-175), (2005). I. W. Lurie, G. I. Lazjuk, I. A. Korotkova and E. D. [doi.org]

• Muscle Cramp

  AMP deaminase deficiency see adenosine monophosphate deaminase deficiency muscle glycogen phosphorylase deficiency see glycogen storage disease type V Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy muscle phosphofructokinase deficiency [herenciageneticayenfermedad.blogspot.com]

• Hearing Impairment

  Sensorineural hearing impairment Hearing loss, sensorineural, Sensorineural deafness [more] A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [rarediseases.oscar.ncsu.edu]

  impairment Symptoms // Phenotype % cases Hearing impairment Very Common - Between 80% and 100% cases Sensorineural hearing impairment Very Common - Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases Nystagmus Common [mendelian.co]

  More on Congenital Disorders » Deafness : Hearing loss is extremely common and can present at any time from infancy to old age. About 1 in 1000 infants has profound hearing impairment, with half thought to be 1 ... ... [familydiagnosis.com]

  impairment Hearing impairment Low-set ears Sensorineural hearing loss disorder Etiology Hum Genet 2022 Apr;141(3-4):821-838. [ncbi.nlm.nih.gov]

  impairment 0011476 Progressive Worsens with time 0003676 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Seizures Seizure 0001250 Sensorineural hearing impairment [rarediseases.info.nih.gov]

• Suggestibility

  The example of TBC1D24 suggests that certain recessive genes may also present with a very broad phenotypic range. [epilepsygenetics.net]

  We also detected Tbc1d24 expression in mouse phalangeal chondrocytes and calvaria, which suggests a role of TBC1D24 in skeletogenesis. [ncbi.nlm.nih.gov]

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

• Downturned Corners of the Mouth

  Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. [uniprot.org]

  DOOR syndrome is associated with characteristic, coarse facial features with large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. [onlinelibrary.wiley.com]

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High [rarediseases.info.nih.gov]

• Coarse Face

  Skin Laxity, with or without Metabolic Abnormalities Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism Mental Retardation, Microcephaly, Epilepsy, and Coarse [rgd.mcw.edu]

• Convulsions

  Generalized tonic-clonic seizures Grand mal seizures, Seizures, tonic-clonic, Tonic-clonic convulsions, Generalised tonic-clonic seizures [more] Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then [rarediseases.oscar.ncsu.edu]

  Familial Febrile, 11 FEB11 614418 Genetic Test Registry Febrile Seizures, Familial, 4 Convulsions, Familial Febrile, 4 FEB4 604352 Genetic Test Registry FG Syndrome 2 FGS2 300321 Genetic Test Registry Focal Cortical Dysplasia Of Taylor Cortical Dysplasia [ukgtn.nhs.uk]

  The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. [encyclopedia.pub]

• Hyporeflexia

  0000232 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High myopia Severe near sightedness Severely close sighted Severely near sighted [ more ] 0011003 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia [rarediseases.info.nih.gov]

  Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

  Congenital nystagmus Aggressive behavior Neonatal hypotonia Cataract Kyphosis Elevated serum creatine phosphokinase Hypoventilation Short neck Dysphagia Strabismus Coloboma Respiratory insufficiency Dementia Clumsiness Facial palsy Unsteady gait Pica Hyporeflexia [mendelian.co]

• Focal Seizure

  Focal seizures Partial seizures Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. Anonychia Absent nails, Aplastic nails Aplasia of the nail. [rarediseases.oscar.ncsu.edu]

  TBC1D24 variants were identified in patients with focal epilepsy and intellectual disability. Seizure onset occurred at 2 months of age and consisted of focal seizures with eye blinking and facial and hand twitching (Corbett et al. 2010). [preventiongenetics.com]

[…] patient with DOOR syndrome, delineate common as well as less frequent manifestations of DOOR syndrome, bring attention to the under appreciated facial features in DOOR syndrome, document the natural history of this disorder, and propose a suggested workup [onlinelibrary.wiley.com]

The biochemical workup was within normal limits. [e-ijd.org]

The patient was admitted to the neurological department for a diagnostic workup of his unknown syndrome. [frontiersin.org]

Because so scads symptoms are associated with thirst disorders, it is powerful repayment for people to have a undivided real workup previous to being checked for these disorders. [astakask.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Management and treatment Treatment is supportive. Long-term management involves regular ophthalmologic and hearing tests as well as neurological exams such as EEGs. A feeding tube may be necessary in infants with feeding difficulties. [findzebra.com]

Over the last thirty-three years, the Day Hospital of the Department of Psychiatry and Mental Health of Santa Marias Hospital, has been dedicated to the treatment of patients suffering from serious mental illness, always trying to engage in this treatment [pepsic.bvsalud.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

[…] the revolving-door syndrome of hospital admissions, readmissions, abandonment to the streets and incarceration that engulfs those not receiving treatment. 2005 Sep. 28, Patrick Manning, Parliamentary Hansard of Trinidad and Tobago, p. 34 (Google preview [en.wiktionary.org]

The number of known adults with DOORS syndrome is at present too small to predict the long term prognosis. Parkinsonism was reported in an adult. [findzebra.com]

The prognosis in terms of survival also varies greatly from early childhood until adulthood. [en.wikipedia.org]

PMID: 24291220Free PMC Article Prognosis Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A Cell Death Differ 2019 Nov;26(11):2464-2478. [ncbi.nlm.nih.gov]

Studies Hand Deformities, Congenital/etiology* Hand Deformities, Congenital/genetics Hearing Loss, Sensorineural/etiology* Hearing Loss, Sensorineural/genetics Humans Intellectual Disability/etiology* Intellectual Disability/genetics Micrognathism/etiology [ncbi.nlm.nih.gov]

Etiology DOORS (deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome) syndrome is caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. [findzebra.com]

Etiologic considerationsof Plummer-Vinson (Paterson-Kelly) syndrome.Ann Intern Med. 1958;49:1106-1128.25. Dent TL, Kukora JS, Buinewicz BR. Endoscopicscreening and surveillance for gastrointestinal ma-lignancy. [docslide.us]

Regarding the etiology of the neurodegenerative presentation, no α-synuclein or tau pathology could be demonstrated by detailed neuropathological assessment of the nigrostriatal system. [frontiersin.org]

Epidemiology The prevalence is unknown; about 50 cases have been reported to date. [findzebra.com]

It provides complete, authoritative information on the biology of the newborn and the pathophysiology and management of diseases during the neonatal period. [books.google.com]

However, the concept that disordered gastrointestinal perception might have a significant pathophysiological role in IBS has only become fashionable during the past decade. [gut.bmj.com]

We advocate for the development of family- and community-based services to prevent separation of children from their families. [openingdoors.eu]

Antiepileptic medication may be used to prevent or decrease the frequency of seizures but is not always effective. Prognosis Life expectancy is usually normal. [findzebra.com]

Compulsive behaviour Compulsions starts as a way of trying to reduce or prevent anxiety caused by the obsessive thought, although in reality this behaviour is either excessive or not realistically connected. [nhs.uk]

In individuals with seizure episodes, treatment may include various medications that may help to prevent, reduce, or control seizures (anticonvulsants). [rarediseases.org]