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Digitorenocerebral Syndrome

DOORS Syndrome


Presentation

  • 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]
  • Affiliated tissues include bone, heart and skin, and related phenotypes are dandy-walker malformation and renal agenesis Genetics Home Reference : 26 DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital[malacards.org]
  • DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital).[ghr.nlm.nih.gov]
  • Some authors have proposed that it may be the same as Eronen Syndrome, but since both disorders are extremely rare it is hard to make a determination. [1] Signs and symptoms [ edit ] Not all of the DOOR symptoms are consistently present.[en.wikipedia.org]
  • Acronym DOORS Synonyms Brachydactyly due to absence of distal phalanges Digitorenocerebral syndrome DOOR syndrome DRC syndrome Eronen syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and[uniprot.org]
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.[ghr.nlm.nih.gov]
  • Diagnosis DOOR syndrome may be suspected shortly after birth by the identification of certain characteristic physical features (i.e., bone, dermatoglyphic, and nail abnormalities).[rarediseases.org]
Multiple Congenital Anomalies
  • Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). Virginia P. Johnson and David P.[doi.org]
  • congenital anomalies-hypotonia-seizures syndrome Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Epiphyseal Dysplasia with Robin Phenotype Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome multiple[rgd.mcw.edu]
Muscle Rigidity
  • 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.[ghr.nlm.nih.gov]
Absent Nails
  • nails, small or absent distal phalanges of hands and feet.[malacards.org]
  • 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]
  • "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation[ghr.nlm.nih.gov]
  • Definition A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet.[uniprot.org]
  • Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and[genecards.org]
Hand Deformity
  • Deformities, Congenital/etiology* Hand Deformities, Congenital/genetics Hearing Loss, Sensorineural/etiology* Hearing Loss, Sensorineural/genetics Humans Intellectual Disability/etiology* Intellectual Disability/genetics Micrognathism/etiology* Micrognathism[ncbi.nlm.nih.gov]
Fetal Disorder
  • Congenital disorders include birth defects , fetal disorders , and genetic disorders ... ... More on Congenital Disorders » Deafness : Hearing loss is extremely common and can present at any time from infancy to old age.[familydiagnosis.com]
Hearing Impairment
  • About 1 in 1000 infants has profound hearing impairment, with half thought to be 1 ... ... More on Deafness » Developmental Delay : Developmental disabilities are severe, long-term problems. They may be physical, such as blindness .[familydiagnosis.com]
  • 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]
  • 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]
  • In those with such hearing impairment, sound may be conducted normally through the external and middle ear.[rarediseases.org]
  • Impairment, and Cleft Palate middle lobe syndrome Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA depletion syndrome 8A mitochondrial pyruvate[rgd.mcw.edu]
Suggestibility
  • We also detected Tbc1d24 expression in mouse phalangeal chondrocytes and calvaria, which suggests a role of TBC1D24 in skeletogenesis.[ncbi.nlm.nih.gov]
  • Studies suggest the protein may have several roles in cells. The ... 2 ...[familydiagnosis.com]
  • Get Update Overview The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. {2:Cantwell (1975)} suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal[diseaseinfosearch.org]
  • Studies suggest the protein may have several roles in cells.[ghr.nlm.nih.gov]
  • Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.[malacards.org]
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.[malacards.org]
  • 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]
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]
  • 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]
Staring Spells
  • spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks.[ghr.nlm.nih.gov]

Workup

  • 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]

Treatment

  • 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]
  • 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]
  • Standard Therapies Treatment The treatment of DOOR syndrome is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]
  • Digoxin and Digitoxin are used in the treatment of heart arrhythmias and heart failure. Absorbance measurements were collected at 530 nm based on preliminary data from digitoxin standard absorbance curves (unpublished data).[freethesaurus.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]

Prognosis

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

Etiology

  • 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]
  • 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]

Pathophysiology

  • 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]

Prevention

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

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