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]

• 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]

• Fever

  These seizures persisted throughout life and were sensitive to fever, but were well controlled with medication (Afawi et al. 2013). Mild developmental delay was noted in early development. [preventiongenetics.com]

  Deletion 6q16 q21 Delleman Oorthuys syndrome Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency Delta-sarcoglycanopathy Dem-Dep Dementia progressive lipomembranous polycysta Dementia, familial British Demodicidosis Demyelinating disease Dengue fever [wikidoc.org]

  ＞21水酸化酵素欠損症（21-hydroxylase deficiency） ＜8＞中枢性思春期早発症（central precocious puberty） ＜9＞性分化疾患（disorder of sex development） 【4 免疫・アレルギー・膠原病】 ＜1＞小児気管支喘息（childhood bronchial asthma） ＜2＞アトピー性皮膚炎（atopic dermatitis） ＜3＞食物アレルギー （food allergy） ＜4＞リウマチ熱（rheumatic fever [medica.co.jp]

  […] fatty, faulk-epstein-jones, favism, fazio-londe, fcd, features, febrile, feet, feingold, feinmesser, felty, female, femoral, femoral-facial, femur, femur-fibula-ulna, ferlini-ragno-calzolari, fernhoff-blackston-oakley, ferritinemia, fetal, fetalis, fever [rapsodyonline.eurordis.org]

• Pallor

  […] mitochondrial metabolism Distal amyotrophy Axonal degeneration Progressive spasticity Achilles tendon contracture 3-Methylglutaconic aciduria Hamstring contractures Adductor longus contractures Milia X-linked recessive inheritance Rod-cone dystrophy Pallor [mendelian.co]

• Hepatosplenomegaly

  Among the differential diagnoses, Coffin–Siris syndrome (no deafness), Zimmerman Laband syndrome (hepatosplenomegaly is present but mental retardation and deafness are not evident), fetal hydantoin syndrome and fetal alcohol syndrome should be considered [e-ijd.org]

  […] hemochromatosis, hemoglobin, hemolytic, hemophilia, hemorrhage, hemorrhagic, henkin, hennekam, hennekam-beemer, henoch-schoenlein, henselae, heparin-induced, hepatic, hepatitis, hepatoblastoma, hepatocellular, hepatolenticular, hepatoportal, hepatosplenic, hepatosplenomegaly [rapsodyonline.eurordis.org]

  Cri-du-Chat syndrome + Crigler-Najjar syndrome + Crome Syndrome Crouzon syndrome-acanthosis nigricans syndrome Crumpled Helices and Small Mouth Crush Syndrome Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly [rgd.mcw.edu]

• 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]

• 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]

• Psychomotor Retardation

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  PSPH deficiency Psychomotor Agitation + Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism Pupil, Egg-Shaped Pupillary Membrane, Persistence of Qazi Markouizos syndrome Radio Renal Syndrome Radioulnar Synostosis Retinal Pigment Abnormalities [rgd.mcw.edu]

• 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]

• Dystonia

  see Myoclonus-dystonia DYT12, see Rapid-onset dystonia parkinsonism DYT3, see X-linked dystonia-parkinsonism DYT6, see Dystonia 6 DYT6 dystonia, see Dystonia 6 [herenciageneticayenfermedad.blogspot.com]

  […] musculorum deformans type 1 Dystonia musculorum deformans type 2 Dystonia musculorum deformans Dystonia progressive with diurnal variation Dystonia Dystrophia myotonica Dystrophic epidermolysis bullosa Dystrophinopathy [wikidoc.org]

  Retardation [syndrome] DOPS Diffuse Obstructive Pulmonary Syndrome; Dihydroxyphenylserine; Dioleoyl-phosphatidyl Serine DPS Descending Perineum Syndrome DPS Dysesthetic Pain Syndrome DRC Digitorenocerebral [syndrome] DRD Dihydroxyphenylalanine-responsive Dystonia [medicabbreviations.com]

  Features included infantile onset myoclonic seizures, dystonia, and psychomotor delay (Guven and Tolun 2013). Variable features included postictal enduring hemiparesis, refractory seizures, bilateral optic atrophy, and macular degeneration. [preventiongenetics.com]

• 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]

• Psychomotor Regression

  Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. {ECO:0000269 PubMed:23526554, ECO:0000269 PubMed:27541164}. [genecards.org]

  Psychomotor regression was seen after 3 months and was associated with hypotonia, loss of visual contact, and absence of prehension. [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]