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Bart-Pumphrey syndrome

ICD-10 Codes

Related ICD-10:

Z67.A1 H47.023 H18.522 H59.89 M11.14 L60.3 H69 H02.145 H02.233 H35.021 M65.91 Q38.6 M31.3 H15.05 M60.84 M24.471 M94.1 S30.823 H11.039 L11 M84.872 H02.151 L66.81 K11.1 G25.2 S40.829 E83.09 M61.162 Q28.0 M89.76 M89.73 B08.0 I63.22 S23.120 E80.21 H47.13 M43.4 M24.64 H50.122 E70.8 D36.11 H18.839 Q68.1 H69.81 H21.249 Q64.73 M24.274 H15.059 H04.153 S13.180 H33.191 Q77.5 E75.00 H02.722 H11.129 G93.2 H02.513 D22.2 D81.5 Q70.12 R07.81 Z87.73 H35.371 M30.2 M89.49 M48.22 Q70.10 Q81.2 H18.542 T26.51 M34.1 H17.823 G71.9 H93.A3 M71.46 Q69.9 Q70.02 Q71.812 H02.874 M43.8X2 G90.513 H44.2C3 M60.121 Q71.60 H53.033 H35.23 N01.6 M12.43 H35.372 H61.031 M89.511 G90.1 H04.033 Q93.4 M93.231 L44.8 Q76.412 H16.443 H02.70 Q85.81 S00.02 M86.321 M24.675 E75.0 M24.442 Q85.89 D47.01 H18.01 Q70.1 G23.0 H02.215 Q30.1 A44.1 C13.1 H02.845 M24.53 M61.232 M46.08 M47.897 Q71.33 H02.5 M84.87 Q13.3 G40.42 M61.272 Q38 N30.1 Q82.3 C4A.5 Q78.3 H11.223 M21.52 H83.11 H21.22 H21.229 H69.00 Q77.8 M63 M89.321 M24.22 M62 Z90.13 M84.85 M99.44 C75.4 Q70.01 M61.261 R68.3 R23.2 C86.31 H80.13 S00.242 M05.44 H35.019 H55.01 M46.83 H16.411 H31 H02.512 L87.2 M24.13 H02.155 M25.32 M72 S23.122 S30.825 M26.07 M86.452 M60.819 M24.12 M72.4 M79.89 H02.52 H02.521 M47.891 E80.6 H91.03 M63.8 G90.519 I69.352 M02.332 T32.74 H31.2 L90.4 M62.42 Q87 H16.44 H18.722 M43.8X1 Q23.8 H93.233 S01.152 M86.38 D81.818 M54.0 M54.07 M24.04 G11.10 H57.8 L85.2 H02.871 G56.2 G96.8 L85.0 E70.9 H54.3 Q97.3 G11.8 F95.1 M65.87 H02.154 D58.8 G37.1 Q71.12 Q83.3 M94.35 Z87.768 H18.5 H21.24 L74.8 R15.9 H02.864 F78.A1 H15.89 E74.05 M89.362 M89.43 M61.512 Q80.3 H47.219 H95.01 I69.865 H05.41 H73.013 M61.122 H02.21C Q04.8 H15.051 Q83.0 H05.263 G44.09 M71.84 H16.413 I69.392 H11.412 N02.2 H80.0 S00.42 Q91.4 H18.463 Q99.9 E04.2 M87.31 H44.533 G51.33 Q16.5 Q17.3 M05.212 M61.27 H11.233 M89.48 E72.3 H44.522 K11.4 Q87.1 M61.56 E70.318 M46.88 M86.34 H35.70 H31.123 H71.32 Q64.19 S43.21 H17.811 L85.8 S00.92 G24.4 M61.221 M94.8 M61.521 M04 H35.73 R22.1 G90.B M85.2 N07.5 R94.113 H35.53 Q13.1 R27.0 H55.09 M11.25 M24.651 H15.822 S53.193 G58 M21.83 M61.249 C4A.1 H49.23 Q71.20 S23.132 H93.8X9 H18.003 Q80.4 D80.2 H02.142 N07.1 H04.213 M94.9 H33.033 D89.82 F42.4 M61.271 H02.044 M86.331 N90.61 S60.321 H90.A31 Q74.0 E76.8 M61.23 H10.51 H33.039 S00.221 H18.021 E71.314 J38.7 D72.89 L72.2 O35.19 M71.331 M61.28 M25.03 M54.08 Q10.1 M61.279 E20.89 H21.8 H16.442 Q75.5 H35.013 M89.71 T71.231 M11.12 S20.323 H35.7 H18.051 M86.31 T32.94 H53.31 G71.11 L40.51 G51.39 H18.031 I69.954 M61.54 M62.521 H05.413 H90.72 S40.821 H10.513 Q80.2 Q96.0 H18.11 M61.251 I73.81 H11.053 M72.1 K52.838 M89.529 H93.3X3 H04.223 H31.412 M86.339 H50.18 H02.23A H16.123 E88.43 N52.03 E71.53 H70.209 H18.832 Q06.0 S00.521 G82.51 H83.2X2 H33.192 M11.131 G12.22 H53.55 L12.9 H61.322 M89.541 Q71.23 H59.013 H21.211 C4A.31 H11.241 M89.59 H02.514 H95.13 H11.133 H31.20 G51.3 G51.32 F07.8 G43.011 H90.A1 H11.112 M12.432 M14.64 M71.83 S50.32 M89.549 M61.212 Z89.022 H02.511 H16.432 E70.32 N07.6 R46.89 M24.47 T26.52 E26.81 H11 C86.3 H11.123 N77 S60.32 L67 Q77 G90.9 L94.0 S63.29 E78.81 H11.033 M87.81 M87.811 S93.13 H02.72 H02.51 M60.142 M61.21 S01.15 S43.311 S83.13 M84.83 Q71.11 S30.82 H61.033 Q75.051 H02.141 M61.1 M61.15 H15.84 H90.A3 M62.89 R94.1 H02.53 M12.411 M11.21 M61.411 Q73.1 E88.4 H18.06 M41.52 H90.A Q10.6 Q44.1 Q66.82 S43.312 M79.3 D89.89 F80.8 H18.523 N44.8 H04.619 M24.231 H18.593 H71.33 M60.16 M86.342 M62.54 Q71.0 H47.333 G71.02 M95 S60.82 G95 G95.89 S70.32 G90.51 G90.511 H01.135 M61.211 E75.09 M79.81 K09 H18.833 D64.1 H21.81 M12.452 M99.3 Q30.9 Z87.76 M05.54 M21.85 Q52.6 H15.043 D50.1 H55.0 H18.452 H02.519 M25.37 H57.813 M21.92 G12.8 P28.89 R25.0 H11.23 Q78.0 C47.9 M04.2 Q98 R19.05 S60.52 H02.239 H04.61 H35.062 E75.2 H15.052 H73.8 Q71.31 H61.892 Q75.0 Q75.02 E77 E77.9 H43 H93.3X1 L13.1 M61.26 H02.522 H18.53 H18.543 L90.0 M65.94 H16.059 S60.42 E88 G47.14 G57.6 Q87.0 H47.4 H61.021 L87.8 Q63 G53 N07.0 Q40.2 H05.3 M53.86 M84.8 G40.84 Q73 H02.824 H11.05 H35.0 E77.8 H68.123 M35 M35.6 M61.219 H18.13 Q18.6 H61.01 G43.6 H02.8 H15.823 H47.319 H02.14 M62.5 Q91.5 H02.015 H35.063 M24.531 M89.46 Z96.0 E74.19 E75.11 G72.49 M61.24 E76.210 E76.211 H61.029 Q79.5 G11.19 H02.21A M61.231 H02.15 N02.6 E70.320 H02.146 H18 H33.053 H05.323 H15.042 M89.512 E70.29 M62.56 N11 M11.171 E71.313 M96.89 N07.3 M86.61 I63.6 H35.023 M35.1 G37.8 G52.1 H16.431 H04.13 H02.11 Q99 M71.45 Q85.03 G71.033 H02.045 Q67.4 S23.140 M89.711 H02.42 H02.423 M89.78 Q63.3 Q82.2 T32.87 G71.220 H10.512 H04.163 G44.049 H01.1 H83.8 H18.603 M89.412 Q70.21 H16.143 S02.4 L68.1 S63.240 L40.3 Q66.3 H02.865 K13 M02.37 Q37.4 Q75.002 H49.33 Q71.21 Q91.0 Q96.2 S43.316 Z15.89 M86.8X4 S30.822 M99.48 G11.3 H53.61 Q70.0 H61.023 H11.419 G71.19 H05.261 M86.37 H21.1X E70.339 H05.412 S23.152 H18.1 S10.92 S70.22 Q72.21 E72 H18.712 H35.72 M61.11 H11.023 H93.8X3 H20.82 M89.53 H02.112 G52.0 H05.223 D21 H18.3 M11.211 H05.033 F78.A Q82 E70.89 Q70.03 Q92.8 M87.84 H90.A32 Q71.62 S90.42 I82.553 M05.22 M61.262 Q22.8 Q30.2 N99.52 Q79.61 E72.5 E72.59 H74.32 R46.1 L65.2 I69.319 M26.0 Q13.5 Q71.89 M26.1 N02.A H18.622 H80.1 M89.74 H21.223 M62.511 D89.44 M87.344 Q71.1 H05.26 M89.51 E71.310 E71.51 E71.518 Q72.89 M61 S23.142 G71.228 H92.03 S53.13 H02.516 M24.074 S10.82 G43.619 H47 M93.8 G40.822 H11.89 H33.032 D58.9 H18.52 E74.820 H02.04 H02.041 Q17.1 M60.14 H21.253 H50.16 H44.811 G51.0 H18.02 Q71.63 H15.021 Q70.2 Q70.20 H35.31 Q72.892 S53.133 C96.0 E80 L43.1 M61.222 M86.36 S53.194 D80.0 G58.9 L30.1 G60.0 M48.8X5 G52.3 G70.89 S20.12 M60.19 H35.071 M89.521 P14.3 H93.3X M61.571 N02.0 M12.4 M53.2X7 H15.022 H04.113 M41.43 H02.79 H90.12 M61.241 H11.443 I77.8 M79.6 M30.8 H21.53 H47.22 E71.520 H18.893 H70.201 Q67.1 S24.114 M26.69 M84.811 L13 L70.2 H90.71 H04.219 M86.332 Q71.61 M62.55 E80.0 Q70.23 H16.23 H47.31 M89.419 Q70.11 G90.522 M47.015 E76.02 Q50.6 Q92.9 Q04 Q81.0 H21.269 H18.032 H34.13 G24.8 H53.7 S30.821 G50 L66.4 H18.46 H21 N02.3 H18.503 H93.09 J38.00 M99.72 M61.29 H81.03 H44.523 L90.3 S00.422 H04.131 H02.855 H16.43 C69 K08.23 M89.33 Q81.1 E85.0 L13.8 Q79.1 E71.542 M24.412 H18.023 M89.57 Q13.2 M61.14 M25.84 M12.872 R26.0 H93.232 L81.6 M12.31 H18.733 H21.242 G71.22 H05.4 L90.1 H16.441 M86.341 H15.02 M93.86 H47.233 H61.91 I89 M26.51 H49.43 M35.09 L71.1 E74.82 H21.243 E70.321 H11.059 M24.573 Q93.81 G51.31 E72.89

Description

Bart-Pumphrey syndrome, also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal dominant disorder characterized by several distinct physical and auditory features.

Physical Features:

  • Knuckle Pads: A common feature of Bart-Pumphrey syndrome is the presence of thickened skin on the palmar surfaces of the hands, known as knuckle pads.
  • Leukonychia: People with this condition often have white or opaque patches on their nails, a condition known as leukonychia.
  • Palmoplantar Keratoderma: Thickening of the skin on the palms and soles is also a characteristic feature.

Auditory Features:

  • Sensorineural Hearing Loss: The most constant feature of Bart-Pumphrey syndrome is congenital, mild to severe sensorineural hearing loss, caused by a cochlear defect. This can range from mild hearing impairment to profound deafness.

These physical and auditory features are the hallmarks of Bart-Pumphrey syndrome, making it a unique condition among other genetic disorders.

References:

  • [2] Bart-Pumphrey syndrome (OMIM 149200), also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal-dominant syndrome.
  • [4] Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma.
  • [6] Mar 24, 2022 — Bart-Pumphrey syndrome (BPS), also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal dominant disorder ...
  • [9] by G Richard · 2004 · Cited by 125 — Bart–Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and ...

Additional Characteristics

  • Sensorineural Hearing Loss
  • Knuckle Pads
  • Leukonychia
  • Palmoplantar Keratoderma

Signs and Symptoms

Bart-Pumphrey syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.

Main Features:

  • Nail abnormalities: People with Bart-Pumphrey syndrome typically have white or opaque nails, known as leukonychia [1][2][5].
  • Skin abnormalities: The condition is also associated with skin findings, including knuckle pads (hardened areas on the joints of the fingers and toes) [4][6], palmoplantar keratoderma (thickening of the skin on the palms and soles), and other skin lesions.
  • Hearing loss: Congenital or early-onset sensorineural hearing loss is a constant feature of this disorder, caused by a cochlear defect [8][9].

Other Possible Features:

  • Symmetric or asymmetric knuckle pads, typically located on the distal and interphalangeal joints [6]
  • Palmoplantar keratoderma (PPK) [4]

It's essential to note that Bart-Pumphrey syndrome is a rare condition, and not all individuals with this disorder will exhibit all

Additional Symptoms

  • Nail abnormalities: white or opaque nails
  • Skin abnormalities: knuckle pads, palmoplantar keratoderma, other skin lesions
  • Hearing loss: congenital or early-onset sensorineural hearing loss
  • Symmetric or asymmetric knuckle pads on distal and interphalangeal joints
  • Palmoplantar keratoderma (PPK)

Diagnostic Tests

Bart-Pumphrey syndrome, also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal-dominant syndrome characterized by nail and skin abnormalities and hearing loss.

Diagnostic tests for Bart-Pumphrey syndrome:

  • Mutation scanning/screening: This test involves analyzing the genetic material to identify mutations associated with Bart-Pumphrey syndrome. It can be performed using Next-Generation Sequencing (NGS) sequencing, except Whole Exome Sequencing (WES), or Sanger sequencing of selected exons [2][4].
  • Deletion/duplication analysis: This test is used to detect deletions or duplications in the genetic material that may be associated with Bart-Pumphrey syndrome [5].
  • Microsatellite instability testing (MSI): This test is used to assess the stability of microsatellites, which are short DNA sequences that repeat multiple times. MSI can help identify mutations associated with Bart-Pumphrey syndrome [5].
  • Targeted variant analysis: This test involves analyzing specific genetic variants associated with Bart-Pumphrey syndrome [5].

Clinical Genetic Tests:

  • Fulgent Genetics: Offers a Clinical Genetic Test for conditions, including Bart-Pumphrey syndrome. The test includes mutation scanning/screening and sequence analysis of selected exons [7].
  • IVAMI: Performs detection of mutations associated with Bart-Pumphrey syndrome by complete PCR amplification of exons GJB2, followed by sequencing [9].

Other Diagnostic Tests:

  • Diagnostic sonography: This is a type of real-time imaging technology that uses high-frequency sound waves to process images and movement from within the body. It can be used in conjunction with other diagnostic tests to help diagnose Bart-Pumphrey syndrome [14].
  • Imaging services: Various imaging services, such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms, may also be used to support diagnosis [10][11][12][13].

Please note that these diagnostic tests are not exhaustive and may vary depending

Additional Diagnostic Tests

  • Targeted variant analysis
  • duplication analysis
  • screening
  • Microsatellite instability testing (MSI)
  • Diagnostic sonography
  • Imaging services

Treatment

Bart-Pumphrey syndrome is a rare genetic disorder characterized by nail and skin abnormalities, hearing loss, and knuckle pads. While there is no cure for the condition, various treatments can help manage its symptoms.

Treatment Options:

  • Steroid injections: Injecting steroid medicines into the knuckle pads can shrink them, making them less noticeable [4].
  • Regular hydration and skin care: Maintaining good skin health through regular hydration and proper skin care is essential for managing palmoplantar keratoderma, a common feature of Bart-Pumphrey syndrome [9].

Other Considerations:

  • Molecular studies: While expensive, molecular studies can help accurately classify the condition and provide valuable information for treatment planning [9].
  • Consulting a healthcare professional: It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs.

Important Note:

  • Bart-Pumphrey syndrome is a rare and complex condition, and its treatment may vary depending on individual circumstances. Consultation with a healthcare professional is crucial for accurate diagnosis and effective management.

References:

[4] - Steroid injections can shrink knuckle pads, making them less noticeable. [9] - Regular hydration and skin care remains primary therapy; molecular studies are imperative for accurate classification.

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Bart-Pumphrey syndrome (BPS) is a rare genetic disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia. When attempting to diagnose BPS, it's essential to consider differential diagnoses that

Additional Differential Diagnoses

  • Vohwinkel syndrome
  • Palmoplantar keratoderma with spastic paraplegia
  • Keratitis ichthyosis deafness (KID) syndrome
  • Ectodermal dysplasias

Additional Information

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https://w3id.org/def/predibionto#has_symptom_695
owl#annotatedSource
t332687
relatedICD
http://example.org/icd10/S53.193
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0050658
oboInOwl#hasDbXref
MIM:149200
IAO_0000115
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.
oboInOwl#hasExactSynonym
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000147
rdf-schema#comment
OMIM mapping confirmed by DO. [SN].
core#notation
DOID:0050658
rdf-schema#label
Bart-Pumphrey syndrome
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t332677
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.