Bart-Pumphrey syndrome
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
Bart-Pumphrey syndrome is characterised by nail and skin abnormalities and hearing loss.
विवरण
Bart-Pumphrey syndrome is characterised by nail and skin abnormalities and hearing loss.
People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.
The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital).
The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Knuckle pads, deafness, and leukonychia syndrome
Knuckle pads, leukonychia, and sensorineural deafness
Related patient information and medicines
Patient information leaflet
बार्थोलिन की सिस्ट और फोड़ा
Bartholin's glands are small glands that हैं just next to the lower part of the entrance to the vagina, one on each side. Each gland is about the size of a pea. Unless swollen or infected, you cannot normally see or feel these glands. What is a Bartholin's cyst. A Bartholin's cyst is a fluid-filled sac that develops in one of the Bartholin's.
Patient information leaflet
थप्पड़ गाल सिंड्रोम
Slapped cheek syndrome is normally a mild, short illness. However, the rash may appear to be quite dramatic. However, it can cause harm to an unborn baby so women who are pregnant a... What is slapped cheek syndrome. Slapped cheek syndrome, sometimes called fifth disease or erythema infectiosum, है an infection caused by the parvovirus B19 virus..
Patient information leaflet
गर्दन की पसली
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. The brachial plexus, a group of nerves passing from your neck to your arm, passes through the thoracic.
Patient information leaflet
मौखिक एलर्जी सिंड्रोम
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
स्लीप एपनिया
यदि आपके पास स्लीप एपनिया (also known as obstructive sleep apnoea syndrome), you have many periods when your breathing stops for 10 seconds or more when you sleep. Central sleep apnoea usually has a neurological cause or can be du... This leaflet focuses on obstructive sleep apnoea syndrome (OSAS), which is a sleep disorder where your breathing.
Patient information leaflet
भ्रूण एंटीकन्वल्सेंट सिंड्रोम
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
अधिक पठन और संदर्भ
- Bart-Pumphrey syndrome; MedlinePlus, National Library of Medicine.
- Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822. No abstract available.
- Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276.
- Ramer JC, Vasily DB, Ladda RL. Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J Med Genet. 1994 Jan;31(1):68-71. doi: 10.1136/jmg.31.1.68.
- Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol. 2004 Nov;123(5):856-63. doi: 10.1111/j.0022-202X.2004.23470.x.
- Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.